1-49	50-99	100-149	150-199	200-249	250-299	300-349	350-399	400-449	450-499
500-549	550-599	600-649	650-699	700-749	750-799	800-849	850-899	900-949	950-999
1000-1049	1050-1099	1100-1149	1150-1199	1200-1249	1250-1299	1300-1349	1350-1399	1400-1449	1450-1499

0. Liehr et al. unpublished data

1. Li P, Liehr T.
   Human ring chromosomes. A practical guide for clinicians and families.
   Springer. 2024
2. Gordon RR, Cooke P.
   Ring-1 chromosome and microcepahlic dwarfism.
   Lancet. 1964 Dec 5;2(7371):1212-3.
   
3. Cooke P, Gordon RR.
   Cytological studies on a human ring chromosome.
   Ann Hum Genet. 1965 Nov;29(2):147-50.
   
4. Maltby E, Suvarna K
   Constitutional ring 1 chromosome: A case study of the genetic and pathological implications.
   In: Abstracts of the 6th European cytogenetics
   conference, Istanbul, Turkey, 7–10 July 2007.
5. Wolf CB, Peterson JA, LoGrippo GA, Weiss L.
   Ring 1 chromosome and dwarfism--a possible syndrome.
   J Pediatr. 1967 Nov;71(5):719-22.
   
6. Bobrow M, Emerson PM, Spriggs AI, Ellis HL.
   Ring-1 chromosome, microcephalic dwarfism, and acute myeloid leukemia.
   Am J Dis Child. 1973 Aug;126(2):257-60.
   
7. Kjessler B, Gustavson KH, Wigertz A.
   Apparently non-deleted ring-1 chromosome and extreme growth failure in a mentally retarded girl.
   Clin Genet. 1978 Jul;14(1):8-15.
   
8. Gardner RJ, Grindley RM, Chewings WE, Clarkson JE.
   Ring chromosome 1 associated with radial ray defect.
   J Med Genet. 1984 Oct;21(5):400.
   
9. Jiang Y, Zhang Z.
   A case with ring chromosome 1 syndrome.
   J Chinese Med Genet 1994; 11(2):71. (Chinese)
   
10. Hu Q, Chai H, Shu W, Li P.
    Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.
    Mol Cytogenet. 2018 Feb 27;11:19.
    
11. Cutenese C, Mullett M, Hummel M, Wenger SL.
    Ring chromosome 1 in a newborn.
    Clin Dysmorphol. 2000 Apr;9(2):131-3.
    
12. Saliganan S, Lee J, Wei S.
    A patient with constitutional ring 1 chromosome characterized by SNP array CGH.
    Clin Case Rep. 2016 Mar 21;4(4):442-8.
    
13. Garau A, Crisponi G, Cossu P.
    In tema di patologia autosomica: Sindrome plurimalformativa con cromosoma ad anello del gruppo A.
    Clinica Pediatr (parma) 1973; 55:84-95.
14. Maraschio P, Danesino C, Garau A, Saputo V, Vigi V, Volpato S.
    Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation.
    Hum Genet. 1979 Apr 27;48(2):157-67.
15. Sutherland GR, Carter RF.
    46,XX/46,XX,r(2)(p25q37) mosaicism: clinical and cytogenetic studies.
    Ann Genet. 1978 Sep;21(3):164-7.
    
16. Vigfusson NV, Kapstafer KJ, Lloyd MA.
    Ring chromosome 2 in a child with growth failure and few congenital abnormalities.
    Am J Med Genet. 1980;7(3):383-9.
17. Cote GB, Katsantoni A, Deligeorgis D.
    The cytogenetic and clinical implications of a ring chromosome 2.
    Ann Genet. 1981;24(4):231-5. PMID: 6977305.
18. Sarri C, Douzgou S, Kontos H, Anagnostopoulou K, Tümer Z, Grigoriadou M, Petersen MB, Kokotas H, Merou K, Pandelia E, Giouroukou E, Papanikolaou K, Côté GB, Gyftodimou Y.
    35-year follow-up of a case of ring chromosome 2: Array-CGH analysis and literature review of the ring syndrome.
    Cytogenet Genome Res. 2015;145(1):6-13.
    
19. Jansen M, Beemer FA, van der Heiden C, Van Hemel JO, Van den Brande JL.
    Ring chromosome 2: clinical, chromosomal, and biochemical aspects.
    Hum Genet. 1982;60(1):91-5.
20. Lacassie Y, Arriaza MI, Vargas A, La Motta I.
    Ring 2 chromosome: ten-year follow-up report.
    Am J Med Genet. 1999 Jul 16;85(2):117-22.
    
21. Dee SL, Clark AT, Willatt LR, Yates JR.
    A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH.
    J Med Genet. 2001 Sep;38(9):E32.
    
22. Kosho T, Matsushima K, Sahashi T, Mitsui N, Fukushima Y, Sobajima H, Ohashi H.
    "Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes.
    Genet Couns. 2005;16(1):65-70.
23. Alkuraya FS, Kimonis VE, Holt L, Murata-Collins JL.
    A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome".
    Am J Med Genet A. 2005 Feb 1;132A(4):447-9.
    
24. Chen CP, Lin CJ, Chang TY, Chern SR, Wu PS, Chen YT, Su JW, Lee CC, Chen LF, Wang W.
    Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization.
    Gene. 2013 Apr 25;519(1):164-8.
    
25. López-Uriarte A, Quintero-Rivera F, de la Fuente Cortez B, Puente VG, Campos Mdel R, de Villarreal LE.
    Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features.
    Gene. 2013 Oct 15;529(1):65-8.
    
26. Severino M, Accogli A, Gimelli G, Rossi A, Kotzeva S, Di Rocco M, Ronchetto P, Cuoco C, Tassano E.
    Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.
    Mol Cytogenet. 2015 Mar 5;8:17.
    
27. Mukerjee D, Burdette WJ.
    Multiple congenital anomalies associated with a ring 3 chromosome and translocated 3/X chromosome.
    Nature. 1966 Oct 8;212(5058):153-5.
    
28. Picciano DJ, Berlin CM, Davenport SL, Jacobson CB.
    Human ring chromosomes: a report of five cases.
    Ann Genet. 1972 Dec;15(4):241-7.
    
29. Witkowski R, Ullrich E, Piede U.
    Ring chromosome 3 in a retarded boy.
    Hum Genet. 1978 Jun 27;42(3):345-8.
    
30. Wilson GN, Pooley J, Parker J.
    The phenotype of ring chromosome 3.
    J Med Genet. 1982 Dec;19(6):471-3.
31. Kitatani M, Takahashi H, Yasuda J, Chen CC, Ida F, Shike S.
    A case of ring chromosome 3, 46,XX,-3,+r(3)(p26q29).
    Jinrui Idengaku Zasshi. 1984 Jun;29(2):157-62.
    
32. Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, Yokoyama Y, Kimoto H.
    Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.
    Am J Med Genet. 1990 Feb;35(2):269-73.
    
33. Lakshminarayana P, Nallasivam P.
    Cornelia de Lange syndrome with ring chromosome 3.
    J Med Genet. 1990 Jun;27(6):405-6.
    
34. McKinley M, Colley A, Sinclair P, Donnai D, Andrews T.
    De novo ring chromosome 3: a new case with a mild phenotype.
    J Med Genet. 1991 Aug;28(8):536-8.
    
35. Teyssier M, Piperno D, Charrin C.
    Chromosome 3 en anneau chez un adulte nain et retardé mental [Ring chromosome 3 in a mentally retarded adult dwarf].
    Ann Genet. 1991;34(1):33-6. French.
36.  Yip MY, MacKenzie H, Kovacic A, McIntosh A.
    Chromosome 3p23 break with ring formation and translocation of displaced 3p23-->pter segment to 6pter.
    J Med Genet. 1996 Sep;33(9):789-92.
    
37. Barajas-Barajas LO, Velarde-Félix S, Elizarrarás-Rivas J, Hernández-Zaragoza G, Vázquez-Herrera JA.
    De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris.
    Genet Couns. 2001;12(2):151-6.
    
38. Guilherme RS, Bragagnolo S, Pellegrino R, Christofolini DM, Takeno SS, Carvolheira GM, Kulikowski LD, Melaragno MI.
    Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.
    Cytogenet Genome Res. 2011;134(4):325-30.
    
39. Zhang K, Song F, Zhang D, Liu Y, Zhang H, Wang Y, Dong R, Zhang Y, Liu Y, Gai Z.
    Chromosome r(3)(p25.3q29) in a patient with developmental delay and congenital heart defects: A case report and a brief literature review.
    Cytogenet Genome Res. 2016;148(1):6-13.
    
40. Carter R, Baker E, Hayman D.
    Congenital malformations associated with a ring 4 chromosome.
    J Med Genet. 1969 Jun;6(2):224-7.
    
41. Bobrow M, Joness LF, Clarke G.
    A complex chromosomal rearrangement with formation of a ring 4.
    J Med Genet. 1971 Jun;8(2):235-9.
    
42. Surana RB, Bailey JD, Conen PE.
    A ring-4 chromosome in a patient with normal intelligence and short stature.
    J Med Genet. 1971 Dec;8(4):517-21.
    
43. Bofinger MK, Dignan PS, Schmidt RE, Warkany J.
    Reduction malformations and chromosome anomalies.
    Am J Dis Child. 1973 Jan;125(1):135-43.
    
44. Parker CE, Alfi OS, Derencsenyi A, Mavalwala J, Donnell G.
    A child with a ring-4 chromosome (46,XX-46,XX,r 4).
    Am J Dis Child. 1974 Sep;128(3):371-4.
    
45. Niss R, Passarge E.
    Derivative chromosomal structures from a ring chromsome 4.
    Humangenetik. 1975 May 26;28(1):9-23.
    
46. McDermott A, Voyce MA, Romain D.
    Ring chromosome 4.
    J Med Genet. 1977 Jun;14(3):228-32.
    
47. Pérez-Castillo A, Abrisqueta JA.
    Ring chromosome 4 and Wolf syndrome.
    Hum Genet. 1977 Jun 10;37(1):87-91.
    
48. Chavin-Colin F, Turleau C, Limal JM, de Grouchy J.
    Anneau du chromosome 4 II. -- Sans dysmorphie faciale [Ring of the chromosome 4. II. Without facial dysmorphism].
    Ann Genet. 1977 Jun;20(2):105-9. French.
    
49. Fraisse J, Lauras B, Couturier J, Freycon F.
    Anneau du chromosome 4 I. - Avec Phénotype 4p- [Ring of the chromosome 4. I - With 4p- phenotype].
    Ann Genet. 1977 Jun;20(2):101-4. French.
    
50. del Mazo J, Abrisqueta JA, Pérez-Castillo A, gulV, Lucas MA, de Torres ML, Martín MJ.
    Partial deletion of 4p16 band in a ring chromosome and Wolf Syndrome.
    Hum Genet. 1978 Oct 19;44(1):105-8.
    
51. Young RS, Zalneraitis EL.
    Neurological and neuropathological findings in ring chromosome 4.
    J Med Genet. 1980 Dec;17(6):487-90.
    
52. Finley WH, Finley SC, Chonmaitree T, Koors JE, Chandler WC.
    Ring 4 chromosome with terminal p and q deletions.
    Am J Dis Child. 1981 Aug;135(8):729-31.
    
53. Kosztolányi G.
    Ring chromosome 4: Wolf syndrome and unspecific developmental anomalies.
    Acta Paediatr Hung. 1985;26(2):157-65.
    
54. Kosztolányi G.
    Decreased cell viability of fibroblasts from two patients with a ring chromosome: an in vitro reflection of growth failure?
    Am J Med Genet. 1987 Sep;28(1):181-4.
    
55. Gutkowska A, Krajewska-Walasek M, Wiśniewski L.
    Ring chromosome 4 : 46,XY, r(4) (p16q35) in a boy.
    Klin Padiatr. 1985 Jul-Aug;197(4):294-6.
    
56. Giuffrè L, Cammarata M, Corsello G, Benigno V, Graziano L, Roccella F, Balsamo V.
    Cromosoma 4 ad anello in gemello [Ring chromosome 4 in twins].
    Pediatr Med Chir. 1987 May-Jun;9(3):349-50. Italian.
57. Fryns JP, Kleczkowska A, Jaeken J, Van den Berghe H.
    Ring chromosome 4 mosaicism and Potter sequence.
    Ann Genet. 1988;31(2):120-2. PMID: 3261147.
58. Halal F, Vekemans M.
    Ring chromosome 4 in a child with duodenal atresia.
    Am J Med Genet. 1990 Sep;37(1):79-82.
    
59. Sherer DM, Shah YG, Wang N, Metlay LA, Woods JR Jr.
    Prenatal diagnosis and subsequent management of a fetus with a 46XY r(4)(p15-q35) karyotype.
    Am J Perinatol. 1991 Jan;8(1):53-5.
    
60. Freyberger G, Wamsler C, Schmid M.
    Ring chromosome 4 in a child with mild dysmorphic signs.
    Clin Genet. 1991 Feb;39(2):151-5.
    
61. Hou JW, Wang TR.
    Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4.
    J Med Genet. 1996 Oct;33(10):879-81.
    
62. Anderson CE, Wallerstein R, Zamerowski ST, Witzleben C, Hoyer JR, Gibas L, Jackson LG.
    Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome.
    Am J Med Genet. 1997 Oct 31;72(3):281-5.
63. Calabrese G, Giannotti A, Mingarelli R, Di Gilio MC, Piemontese MR, Palka G.
    Two newborns with chromosome 4 imbalances: deletion 4q33-->q35 and ring r(4)(pterq35.2-qter).
    Clin Genet. 1997 Apr;51(4):264-7.
    
64. Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT.
    Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.
    Am J Med Genet. 1999 Dec 22;87(5):384-90.
    
65. Kocks A, Endele S, Heller R, Schröder B, Schäfer HJ, Städtler C, Makrigeorgi-Butera M, Winterpacht A.
    Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints.
    J Med Genet. 2002 May;39(5):E23.
    
66. Lee MH, Park SY, Kim YM, Kim JM, Yoo KJ, Lee HH, Ryu HM.
    Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child.
    Cytogenet Genome Res. 2005;111(2):175-8.
    
67. Blackett PR, Li S, Mulvihill JJ.
    Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay.
    Am J Med Genet A. 2005 Aug 30;137(2):213-6.
    
68. Laleye A, Alao MJ, Adjagba M, Hans C, Delneste D, Gnamey DK, Ayivi B, Darboux RB.
    Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings.
    Genet Couns. 2006;17(1):35-40.
69. Balci S, Engiz O, Aktaş D, Vargel I, Beksaç MS, Mrasek K, Vermeesch J, Liehr T.
    Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.
    Am J Med Genet A. 2006 Mar 15;140(6):628-32.
    
70. Chen CP, Hsu CY, Tzen CY, Lee CC, Chen WL, Chen LF, Wang W.
    Prenatal diagnosis of mosaic ring chromosome 4.
    Prenat Diagn. 2007 May;27(5):485-7.
    
71. South ST, Bleyl SB, Carey JC.
    Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.
    Am J Med Genet A. 2007 Sep 15;143A(18):2137-42.
    
72. Concolino D, Rossi E, Strisciuglio P, Iembo MA, Giorda R, Ciccone R, Tenconi R, Zuffardi O.
    Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
    J Med Genet. 2007 Oct;44(10):647-50.
    
73. Kim JH, Oh PS, Na HY, Kim SH, Cho HC.
    [A case of mosaic ring chromosome 4 with subtelomeric 4p deletion].
    Korean J Lab Med. 2009 Feb;29(1):77-81. Korean.
    
74. Soysal Y, Balci S, Hekimler K, Liehr T, Ewers E, Schoumans J, Bui TH, Içduygu FM, Kosyakova N, Imirzalioğlu N.
    Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.
    Am J Med Genet A. 2009 Dec;149A(12):2782-7.
    
75. Sodré CP, Guilherme RS, Meloni VF, Brunoni D, Juliano Y, Andrade JA, Belangero SI, Christofolini DM, Kulikowski LD, Melaragno MI.
    Ring chromosome instability evaluation in six patients with autosomal rings.
    Genet Mol Res. 2010 Jan 26;9(1):134-43.
    
76. Domínguez MG, Barros-Núñez P, González-Ramos IA, Rivera H.
    Variegated-like mosaicism and ring syndrome in a r(4) boy. Appraisal of 38 patients with a fairly complete ring 4.
    Genet Couns. 2010;21(4):411-22. Erratum in: Genet Couns. 2011;22(1):85.
    
77. Chen CP, Lin SP, Su YN, Chern SR, Tsai EJ, Wu PC, Lee CC, Wang W.
    Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay.
    Genet Couns. 2011;22(3):321-6.
    
78. Guilherme RS, Meloni VF, Kim CA, Pellegrino R, Takeno SS, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Melaragno MI.
    Mechanisms of ring chromosome formation, ring instability and clinical consequences.
    BMC Med Genet. 2011 Dec 21;12:171.
    
79. Akbas H, Cine N, Erdemoglu M, Atay AE, Simsek S, Turkyilmaz A, Fidanboy M.
    Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.
    Case Rep Obstet Gynecol. 2013;2013:248050.
    
80. Yao Q, Wang L, Yao B, Gao H, Li W, Xia X, Shi Q, Cui Y.
    Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4.
    Mol Cytogenet. 2014 Jul 1;7:45.
    
81. Paththinige CS, Sirisena ND, Kariyawasam UG, Saman Kumara LP, Dissanayake VH.
    Ring Chromosome 4 in a child with multiple congenital abnormalities: A case report and review of the literature.
    Case Rep Genet. 2016;2016:4645716.
    
82. Burgemeister AL, Daumiller E, Dietze-Armana I, Klett C, Freiberg C, Stark W, Lingen M, Centonze I, Rettenberger G, Mehnert K, Zirn B.
    Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.
    Am J Med Genet A. 2017 Mar;173(3):727-732.
83. Kishi Y, Ikeda H.
    A case of thumb polydactyly which ulnar thumb has no active motion in ring chromosome 4.
    J Hand Surg Asian Pac Vol. 2018 Dec;23(4):566-570.
    
84. Paz-Y-Miño C, Proaño A, Verdezoto SD, García JL, Hernández-Rivas JM, Leone PE.
    Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.
    BMC Med Genomics. 2019 Nov 21;12(1):167.
    
85. Lyu Y, Song F, Zhang K, Gao M, Ma J, Wang D, Wan Y, Liu Y, Gai Z.
    [Analysis of clinical and genetic characteristics of a child with ring chromosome 4 syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):843-846. Chinese.
    
86. Phillips EA, Caluseriu O, Schlade-Bartusiak K, Chernos J, McLeod DR, Thomas MA.
    Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.
    Clin Dysmorphol. 2021 Oct 1;30(4):173-176.
    
87. Rohde RA, Tompkins R.
    "Cri du Chat" due to a ring-B chromosome.
    Lancet. 1965 Nov 20;2(7421):1075-6.
88. Steele MW, Breg WR, Eidelman AI, Lion DT, Terzakis TA.
    A B-group ring chromosome with mosaicism in a newborn with cri du chat syndrome.
    Cytogenetics 1966; 5(6):419–429.
89. Nakagome Y, Iinume K, Taniguchi K.
    Points of exchange in a human no. 5 ring chromosome.
    Cytogenet Cell Genet. 1973;12(1):35-9.
    
90. Suerinck E, Noël B, Rethore MO.
    Ring chromosome 5 in two malformed boys with Cri du Chat syndrome.
    Clin Genet. 1978 Sep;14(3):125-9.
    
91. Kula K, Patil S, Hanson J, Nowak A, Zellweger H.
    Ring chromosome 5 with dental anomalies.
    Pediatr Dent. 1981 Dec;3(4):329-33.
    
92. Flannery DB, Rogers WG, Byrd JR.
    Ring chromosome 5.
    Clin Genet. 1988 Jul;34(1):74-8.
93. MacDermot KD, Jack E, Cooke A, Turleau C, Lindenbaum RH, Pearson J, Patel C, Barnes PM, Portch J, Crawfurd MD.
    Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.
    Hum Genet. 1990 Oct;85(5):516-20.
94. Migliori MV, Cherubini V, Bartolotta E, Pettinari A, Pecora R.
    Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality.
    Am J Med Genet. 1994 Jan 1;49(1):108-10.
95. Caba L, Rusu C, Plăiaşu 5th, Gug G, Grămescu M, Bujoran C, Ochiană D, Voloşciuc M, Popescu R, Braha E, Pânzaru M, Butnariu L, Sireteanu A, Covic M, Gorduza E.
    Ring autosomes: some unexpected findings.
    Balkan J Med Genet. 2012 Dec;15(2):35-46.
    
96. Basinko A, Giovannucci Uzielli ML, Scarselli G, Priolo M, Timpani G, De Braekeleer M.
    Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.
    Eur J Med Genet. 2012 Feb;55(2):112-6.
    
97. Hu Q, Chai H, Shu W, Li P.
    Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.
    Mol Cytogenet. 2018 Feb 27;11:19.
98. Nozawa A, Ozeki M, Yasue S, Endo S, Kadowaki T, Ohnishi H, Muramatsu H, Hama A, Takahashi Y, Kojima S, Fukao T.
    Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5.
    Int J Hematol. 2020 Nov;112(5):728-733.
    
99. Ciocca L, Surace C, Digilio MC, Roberti MC, Sirleto P, Lombardo A, Russo S, Brizi V, Grotta S, Cini C, Angioni A.
    Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.
    BMC Med Genomics. 2013 Feb 11;6:3.
    
100. Nishigaki S, Hamazaki T, Saito M, Yamamoto T, Seto T, Shintaku H.
     Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6.
     Mol Cytogenet. 2015 Jul 26;8:54.
     
101. Zhang R, Chen X, Li P, Lu X, Liu Y, Li Y, Zhang L, Xu M, Cram DS.
     Molecular characterization of a novel ring 6 chromosome using next generation sequencing.
     Mol Cytogenet. 2016 Apr 21;9:33.
     
102. Pace NP, Maggouta F, Twigden M, Borg I.
     Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.
     Mol Cytogenet. 2017 Mar 23;10:9.
     
103. Sheth F, Liehr T, Shah V, Shah H, Tewari S, Solanki D, Trivedi S, Sheth J.
     A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.
     Ital J Pediatr. 2018 Oct 11;44(1):114.
104. Liu S, Wang Z, Wei S, Liang J, Chen N, OuYang H, Zeng W, Chen L, Xie X, Jiang J.
     Gray matter heterotopia, mental retardation, developmental delay, microcephaly, and facial dysmorphisms in a boy with ring chromosome 6: A 10-year follow-up and literature review.
     Cytogenet Genome Res. 2018;154(4):201-208.
     
105. Corona-Rivera JR, Corona-Rivera A, Zepeda-Romero LC, Rios-Flores IM, Rivera-Vargas J, Orozco-Vela M, Santana-Bejarano UF, Torres-Anguiano E, Pinto-Cardoso M, David D, Bobadilla-Morales L.
     Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.
     Congenit Anom (Kyoto). 2019 Sep;59(5):174-178.
     
106. Sunkak S, Kiraz A, Argun M, Erdoğan İ.
     Restrictive cardiomyopathy with ring chromosome 6 anomaly in a child.
     Anatol J Cardiol. 2021 Oct;25(10):745-746.
     
107. Dong Y, Li J, Zeng Z, Zhang X, Liang M, Yi H, Luo J, Li J.
     Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.
     Mol Cytogenet. 2022 Mar 5;15(1):9. 
108. Moore CM, Heller RH, Thomas GH.
     Developmental abnormalities associated with a ring chromosome 6.
     J Med Genet. 1973 Sep;10(3):299-303.
     
109. Fried K, Rosenblatt M, Mundel G, Krikler R.
     Mental retardation and congenital malformations associated with a ring chromosome 6.
     Clin Genet. 1975 Mar;7(3):192-6.
     
110. Salamanca-Gonez F, Nava S, Armendares S.
     Ring chromosome 6 in a malformed boy.
     Clin Genet. 1975 Nov;8(5):370-5.
     
111. Sele B, Joannard A, Jalbert P, Boucharlat J.
     Chromosome 6 en anneau: un tableau clinique peu spécifique [Ring 6-chromosome: a nonspecific clinical picture].
     Ann Genet. 1977 Dec;20(4):232-6. French.
     
112. Kini KR, Van Dyke DL, Weiss L, Logan MS.
     Ring chromosome 6: case report and review of literature.
     Hum Genet. 1979;50(2):145-9.
     
113. Carnevale A, Blanco B, Castillo J, del Castillo V, Dominguez D.
     Ring chromosome 6 in a child with minimal abnormalities.
     Am J Med Genet. 1979;4(3):271-7.
     
114. Cruz-Marin F, Gilgenkrantz S, Gregoire MJ, Beley G, Pierson M.
     Phénotype d'un sujet porteur d'un chromosome 6 en anneau. Etude clinique et cytogénétique [Phenotype of a ring-chromosome 6 carrier. Clinical and cytogenetic study].
     J Genet Hum. 1980 Dec;28(4):95-104. French.
     
115. Nishi Y, Yoshimura O, Ohama K, Usui T.
     Ring chromosome 6: case report and review.
     Am J Med Genet. 1982 May;12(1):109-14.
     
116. Peeden JN, Scarbrough P, Taysi K, Wilroy RS, Finley S, Luthardt F, Martens P, Howard-Peebles PN.
     Ring chromosome 6: variability in phenotypic expression.
     Am J Med Genet. 1983 Dec;16(4):563-73.
     
117. Van den Berghe H, Fryns JP, Cassiman JJ, David G.
     Chromosome 6 en anneau. Caryotype 46,XY,r(6)-45,XY,-6 [Ring chromosome 6. Karotype 46, XY, r (6)-45, XY,-6].
     Ann Genet. 1974 Mar;17(1):29-35. French.
     
118. Wurster-Hill DH, Hoefnagel D.
     Banding identification of chromosomal abnormalities in four patients: ring (6), translocation (2q-;15q+), translocation (21q;21q) and deletion (22q-).
     J Ment Defic Res. 1975 Jun;19(2):145-50.
     
119. Levin H, Ritch R, Barathur R, Dunn MW, Teekhasaenee C, Margolis S.
     Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.
     Am J Med Genet. 1986 Oct;25(2):281-7.
     
120. Chitayat D, Hahm SY, Iqbal MA, Nitowsky HM.
     Ring chromosome 6: report of a patient and literature review.
     Am J Med Genet. 1987 Jan;26(1):145-51.
     
121. Römke C, Heyne K, Stewens J, Schwinger E.
     Erroneous diagnosis of fetal alcohol syndrome in a patient with ring chromosome 6.
     Eur J Pediatr. 1987 Jul;146(4):443.
     
122. Yoshimitsu K, Nishi Y, Kobayashi Y, Yoshimura O, Ohama K, Oguma N, Usui T
     Decreased superoxide dismutase-2 activity in a patient with ring chromosome 6.
     Am J Med Genet. 1987 Sep;28(1):211-4.
     
123. Paz-y-Miño C, Benítez J, Ayuso C, Sánchez-Cascos A.
     Ring chromosome 6: clinical and cytogenetic behaviour.
     Am J Med Genet. 1990 Apr;35(4):481-3.
     
124. Dawson AJ, Marles SL, Harman CR, Phillips S, Menticoglou S.
     Prenatal diagnosis of ring chromosome 6.
     Prenat Diagn. 1995 Sep;15(9):872-4.
     
125. Walker ME, Lynch-Salamon DA, Milatovich A, Saal HM.
     Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus.
     Prenat Diagn. 1996 Sep;16(9):857-61.
     
126. Birnbacher R, Chudoba I, Pirc-Danoewinata H, König M, Kohlhauser C, Schnedl W, Haas OA.
     Microdissection and reverse painting reveals a microdeletion 6(q26qter) in a de novo r(6) chromosome.
     Ann Genet. 2001 Jan-Mar;44(1):13-8.
     
127. Ivanovich JL, Watson MS, Whelan AJ.
     An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root.
     Am J Med Genet. 2001 Jan 15;98(2):182-4.
     
128. Urban M, Bommer C, Tennstedt C, Lehmann K, Thiel G, Wegner RD, Bollmann R, Becker R, Schulzke I, Körner H.
     Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis.
     Am J Med Genet. 2002 Mar 1;108(2):97-104.
     
129. Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR.
     FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.
     Am J Med Genet A. 2004 Jan 30;124A(3):280-7.
     
130. Andrieux J, Devisme L, Valat AS, Robert Y, Frnka C, Savary JB.
     Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature.
     Eur J Med Genet. 2005 Apr-Jun;48(2):199-206.
131. Höckner M, Utermann B, Erdel M, Fauth C, Utermann G, Kotzot D.
     Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman.
     Am J Med Genet A. 2008 Apr 1;146A(7):925-9.
     
132. Kara N, Okten G, Guneş SO, Saglam Y, Tasdemir HA, Pinarli FA.
     An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion.
     Epilepsy Res. 2008 Aug;80(2-3):219-23.
     
133. Ahzad HA, Ramli SF, Loong TM, Salahshourifar I, Zilfalil BA, Yusoff NM.
     De novo ring chromosome 6 in a child with multiple congenital anomalies.
     Kobe J Med Sci. 2010 Sep 28;56(2):E79-84.
     
134. Lee SJ, Han DK, Cho HJ, Cho YK, Ma JS.
     Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.
     J Korean Med Sci. 2012 Aug;27(8):948-52.
     
135. Anderson C, Carpenter N, Siegler D, Say B.
     Prenatal diagnosis of monosomy 6 and ring chromosome 6 in a fetus with ventriculomegaly.
     Pediatr Res 1999; 45:136.
136. Ocak Z, Göksügür SB, Kocaman EM.
     Mosaic ring chromosome 6 and clinical significance in resistant epilepsy [Dirençli epilepsi olgusunda mozaik ring kromozom 6 ve klinik önemi].
     Türk Ped Arfl / Turk Arch Ped 2012; 47:315-6.
137. Fryns JP, Kleczkowska A, van den Berghe H.
     Ring chromosome 6: twenty years follow-up.
     Ann Genet. 1990;33(3):179.
     
138. Zhou Y, Xu L, Yan L, Chen C, Li H.
     [Prenatal diagnosis of a fetus with mosaicism ring chromosome 2].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Nov 10;41(11):1356-1362. Chinese.
     
139. Chuang SM, Wang TR, Jean HH, Lee FY.
     [The cat cry (cri du chat) syndrome: report of a case with review of 10 cases at the National Taiwan University Hospital].
     Taiwan Yi Xue Hui Za Zhi. 1989 Jun;88(6):635-8, 628-9. Chinese.
     
140. Huang T, Zhu L, Zhang SF, Hu XY, Cheng P, Luan SQ, Chen GH.
     A rare case of ring chromosome 3 syndrome.
     J Biol Regul Homeost Agents. 2020 Feb 24;34(1).
     
141. Zhang K, Song F, Zhang D, Zhang H, Wang Y, Dong R, Zhang Y, Liu Y, Gai Z.
     [Molecular cytogenetic analysis of a case with ring chromosome 3 syndrome].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Dec 10;33(6):816-819. Chinese.
     
142. Ma C, Wang Y, Zhen N, Shao C, Zhang D, Jiang Y, Du Y, Jia Y.
     [Genetic features of a case with mosaic ring chromosome 4 and a review of the literature].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jan 10;40(1):105-109.
     
143. Bartram CR.
     Sister chromatid exchanges in a ring chromosome 4.
     Cytogenet Cell Genet. 1977;18(4):238-41.
144. Zuffardi O, Fichera M, Bonaglia MC.
     The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
     Eur J Med Genet. 2022 Aug;65(8):104532.
     
145. Zackai EH, Breg WR.
     Ring chromosome 7 with variable phenotypic expression.
     Cytogenet Cell Genet. 1973;12(1):40-8.
     
146. Nakano S, Miyamoto N.
     A ring C7 chromosome in a mentally and physically retarded male with various somatic abnormalities.
     Jinrui Idengaku Zasshi. 1977 Jun;22(1):33-41.
     
147. DeLozier CD, Theintz G, Sizonenko P, Engel E.
     A fourth case of ring chromosome 7.
     Clin Genet. 1982 Aug;22(2):90-8.
148. Barros LP, Perz ABA, Brunoni D, Andrade JAD.
     Cromosomo 7 emanel-relato de um caso.
     Cienc Cult 1986; 38(Suppl.):849 (abstract).
149. Kohyama J, Watanabe S, Nakajima M, Suzumura H, Ishikawa T, Ishikawa K, Saito F, Fukuda C.
     Ring chromosome 7: report of a case.
     Acta Paediatr Jpn. 1988 Aug;30(4):517-9.
     
150. Caramia GM, Baroncini A, Osimani P, Forabosco A.
     Ring chromosome 7: report of the fifth case.
     Eur J Pediatr. 1990 Apr;149(7):475-6.
     
151. Koiffmann CP, Diament A, de Souza DH, Wajntal A.
     Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.
     J Med Genet. 1990 Jul;27(7):462-4.
     
152. Biesecker LG, Cox B, Glover TW.
     Severe anomalies associated with ring chromosome 7.
     Am J Med Genet. 1991 Sep 15;40(4):429-31.
     
153. Vollenweider Roten S, Masouyé I, Delozier-Blanchet CD, Saurat JH.
     Cutaneous findings in ring chromosome 7 syndrome.
     Dermatology. 1993;186(2):84-7.
     
154. Vollenweider Roten S, Delozier-Blanchet CD, Masouyé I, Saurat JH.
     Melanoma associated with ring chromosome 7.
     Dermatology. 1993;186(2):138-43.
     
155. DeLozier-Blanchet CD, Masouyé I, Vollenweider S.
     Ring chromosome 7, hyperpigmented skin lesions and malignant melanoma.
     Am J Med Genet. 1992 Aug 1;43(6):1039-40.
156. Tsukamoto H, Sakai N, Taniike M, Nakatsukasa M, Yoshiwara W, Sakamoto H, Fujimura H, Inui K, Okada S.
     Case of ring chromosome 7: the first report of neuropathological findings.
     Am J Med Genet. 1993 Jul 1;46(6):632-5.
     
157. Wahlström J, Bjarnason R, Rosdahl I, Albertsson-Wikland K.
     Boy with a ring 7 chromosome: a case report with special reference to dermatological findings.
     Acta Paediatr. 1996 Oct;85(10):1256-60.
     
158. Sawyer JR, Lukacs JL, Hassed SJ, Arnold GL, Mitchell HF, Muenke M.
     Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly.
     Am J Med Genet. 1996 Oct 16;65(2):113-6.
     
159. Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I, Canto-Herrera J.
     Severe congenital hypoacusia in a patient with mosaic ring chromosome 7.
     Rev Biomed 1999; 10:235-239.
160. Rodríguez L, Sanchís A, Villa A, Cánovas A, Peris S, Estívalis M, Pons S, Martínez-Frías ML.
     Ring chromosome 7 and sacral agenesis.
     Am J Med Genet. 2000 Sep 4;94(1):52-8.
     
161. Vermeesch JR, Baten E, Fryns JP, Devriendt K.
     Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.
     Clin Genet. 2002 Nov;62(5):415-7.
     
162. Mehraein Y, Ehlhardt S, Wagner A, Göttert E, Tilgen W, Zang KD, Dill-Müller D.
     Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient.
     Am J Med Genet A. 2004 Dec 1;131(2):179-85.
     
163. Tsai PY, Lin YH, Chang CH, Chang FM, Kuo PL.
     Ring chromosome 7 presenting with intrauterine growth restriction and multiple anomalies.
     Taiwan J Obstet Gynecol 2005; 44(3):297-299.
164. Kaur A, Dhillon S, Garg PD, Singh JR.
     Ring chromosome 7 in an Indian woman.
     J Intellect Dev Disabil. 2008 Mar;33(1):87-94.
     
165. Tsai LP, Lee KF, Fang JS, Liu IY.
     Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.
     Mol Cytogenet. 2011 Feb 8;4(1):5.
     
166. Henderson LB, Corson VL, Saul DO, Anderson C, Millard S, Batista DA, Blakemore KJ, Descipio C.
     First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7.
     Case Rep Genet. 2013;2013:578202.
     
167. Salas-Labadía C, Cervantes-Barragán DE, Cruz-Alcívar R, Daber RD, Conlin LK, Leonard LD, Spinner NB, Durán-McKinster C, Dávila-Ortíz de Montellano DJ, Del Castillo-Ruiz V, Pérez-Vera P.
     Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.
     Am J Med Genet A. 2014 Jul;164A(7):1765-9.
     
168. Roy SF, Bastian BC, Maguiness S, Giubellino A, Vemula SS, McCalmont TH, Yeh I.
     Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring chromosome 7 syndrome.
     Pigment Cell Melanoma Res. 2021 Sep;34(5):987-993.
     
169. Bangun K, Kreshanti P, Tania V, Ariani Aswin Y, Menna C, Aurino L.
     Bilateral cleft lip and palate in ring chromosome 7 syndrome: A case report and review of clinical characteristics.
     Cleft Palate Craniofac J. 2024 Mar;61(3):527-533.
     
170. Pfeiffer RA, Lenard HG.
     Ringchromosom 8(46, XY, 8 r) bei einem debilen Jungen [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].
     Klin Padiatr. 1973 May;185(3):187-91. German.
     
171. Hamers AJ, van Kempen C.
     Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.
     J Med Genet. 1977 Dec;14(6):451-5.
172. Tariverdian G, Stahl-Mauge C.
     Ringchromosom 8 bei einem geistig und statomotorisch retardiertem Jungen.
     Klin Genet Pädi. 3. Symposium in Kiel. Ed. Tolksdirf M and Spranger J Friedrichsdorf, 1982, 481-485.
173. Mingarelli R, Valorani G, Zelante L, Dallapiccola B.
     Ring chromosome 8 associated with microcephaly.
     Ann Genet. 1991;34(2):90-2.
     
174. Verma RS, Conte RA, Pitter JH, Luke S.
     Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.
     J Med Genet. 1992 Jan;29(1):66-7.
175. Bibas Bonet H, Fontenla M, Fauze R, G de Pinat I.
     Cromosoma 8 en anillo: microcefalia, retardo mental y disformias leves con fenotipo conductual adhesivo [Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype].
     Rev Neurol. 2001 Apr 16-30;32(8):746-50. Spanish.
     
176. Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A.
     Inherited ring chromosome 8 without loss of subtelomeric sequences.
     Ann Genet. 2004 Jul-Sep;47(3):289-96.
     
177. Gradek GA, Kvistad PH, Houge G.
     Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism.
     Eur J Med Genet. 2006 Jul-Aug;49(4):292-7.
     
178. Kashevarova AA, Nikitina TV, Mikhailik LI, Belyaeva EO, Vasilyev SA, Lopatkina ME, Fedotov DA, Fonova EA, Zarubin AA, Sivtsev AA, Skryabin NA, Nazarenko LP, Lebedev IN.
     46,XY,r(8)/45,XY,-8 mosaicism as a possible mechanism of the imprinted Birk-Barel syndrome: A case study.
     Genes (Basel). 2020 Dec 9;11(12):1473.
     
179. Gridina MM, Nikitina TV, Orlova PA, Minina JM, Kashevarova AA, Yakovleva YS, Lopatkina ME, Vasilyev SA, Fedotov DA, Mikhailik LI, Nazarenko LP, Lebedev IN, Serov OL.
     Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism.
     Stem Cell Res. 2020 Dec;49:102024.
     
180. la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z.
     Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
     Am J Med Genet A. 2013 Jun;161A(6):1447-52.
     
181. Penacho V, Galán F, Martín-Bayón TA, Mayo S, Manchón I, Carrasco A, Martínez-Castellano F, Alcaraz LA.
     Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion.
     Cytogenet Genome Res. 2014;144(4):275-9.
     
182. Laursen RJ, Tüttelmann F, Humaidan P, Elbæk HO, Alsbjerg B, Röpke A.
     Azoospermia and ring chromosome 9--a case report.
     J Assist Reprod Genet. 2015 Feb;32(2):293-6.
     
183. Sivasankaran A, Kanakavalli MK, Anuradha D, Samuel CR, Kandukuri LR.
     Ring chromosome 9 and chromosome 9p deletion syndrome in a patient associated with developmental delay: A case report and review of the literature.
     Cytogenet Genome Res. 2016;148(2-3):165-73.
     
184. Qin S, Wang X, Li Y, Wei P, Chen C, Zeng L.
     [Analysis of genetics mechanism for the phenotypic diversity in a patient carrying a rare ring chromosome 9].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):71-5. Chinese.
     
185. Marsudi BA, Kartapradja H, Paramayuda C, Batubara JRL, Harahap AR, Marzuki NS.
     Loss of DMRT1 gene in a mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature.
     Mol Cytogenet. 2018 May 8;11:28.
     
186. Lyu N, Li D, Li J, Shang Q, Ma C.
     [Kleefstra syndrome 1 and ring chromosome 9 in a case].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):837-840. Chinese.
     
187. Chai H, Ji W, Wen J, DiAdamo A, Grommisch B, Hu Q, Szekely AM, Li P.
     Ring chromosome formation by intra-strand repairing of subtelomeric double stand breaks and clinico-cytogenomic correlations for ring chromosome 9.
     Am J Med Genet A. 2020 Dec;182(12):3023-3028.
     
188. Kistenmacher ML, Punnett HH.
     Comparative behavior of ring chromosomes.
     Am J Hum Genet. 1970 May;22(3):304-18.
     
189. Kistenmacher ML, Punnett HH, Aronson M, Miller RC, Greene AE, Coriell LL.
     A ring 9 chromosome. Repository identification no. GM-166.
     Cytogenet Cell Genet. 1975;15(2):122-3.
     
190. Jacobsen P, Mikkelsen M, Rosleff F.
     A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl.
     Clin Genet. 1973;4(5):434-41.
     
191. Nakajima S, Yanagisawa M, Kamoshita S, Nakagome Y.
     Mental retardation and congenital malformations associated with a ring chromosome 9.
     Hum Genet. 1976 Jun 29;32(3):289-93.
     
192. Fraisse J, Lauras B, Ooghe MJ, Freycon F, Rethoré MO.
     A propos d'un cas de chromosome 9 en anneau. Indentification par dénaturation ménagée [A case of annular chromosome 9. Indentification by controlled denaturation].
     Ann Genet. 1974 Sep;17(3):175-80. French.
     
193. Metaxotou C, Kalpini-Mavrou A.
     Ring chromosome 9. 46,XY,r(9) in a male with ambiguous external genitalia.
     Hum Genet. 1977 Jul 26;37(3):351-4.
194. Fryns JP, Lambrechts A, Jansseune H, Van den Berghe H.
     Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9.
     Hum Genet. 1979;50(1):29-32.
     
195. Inouye T, Matsuda H, Shimura K, Hamazaki M, Kikuta I, Iinuma K, Nakagome Y.
     A ring chromosome 9 in an infant with malformations.
     Hum Genet. 1979 Sep;50(3):231-5.
     
196. Zdansky R, Andrle M, Bühler E, Tsuchimoto T, Mayr WR, Rett A.
     Irregular phenotypic expression of ring chromosomes.
     Humangenetik. 1975;26(3):193-8.
     
197. Hess RO, Meisner LF.
     Apparent Prader-Willi phenotype in a woman with ring chromosome 9.
     Am J Med Genet Suppl. 1987;3:133-8. 
198. Dipierri JE, Matayoshi T.
     Ring chromosome 9: identification of a new case by G- and C-banding.
     Ann Genet. 1982;25(4):243-5. 
199. Portnoi MF, van den Akker J, Le Porrier N, Joye N, Youssef S, Taillemite JL.
     Une nouvelle observation de chromosome 9 en anneau [A new case of ring chromosome 9].
     Ann Genet. 1982;25(3):164-7. French.
     
200. Portnoi MF, van den Akker J, Le Porrier N, Joye N, Youssef S, Taillemite JL.
     Une nouvelle observation de chromosome 9 en anneau [A new case of ring chromosome 9].
     Sem Hop. 1983 Jan 20;59(3):185-8. French.
201. Kasa N, Kasai R.
     A patient with ring 9 chromosome 46,XY,r(9)(p24.1q34.3).
     Acta Paediatr Jpn. 1988 Dec;30(6):710-3.
     
202. Leung AK, Rudd NL.
     A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux.
     Am J Med Genet. 1988 Jan;29(1):43-8.
203. Leung AK, McLeod DR, Nudd NL.
     Metacarpophalangeal pattern profile analysis in a patient with ring (9)/del(9p) mosaicism.
     Am J Med Genet. 1988 Oct;31(2):481-2.
204. Manouvrier-Hanu S, Turck D, Farriaux JP.
     Another case of ring chromosome 9 associated with gastroesophageal reflux.
     Am J Med Genet. 1989 Apr;32(4):558.
     
205. Manouvrier-Hanu S, Turck D, Gottrand F, Savary JB, Loeuille GA, Deminatti MM, Farriaux JP.
     Le chromosome 9 en anneau. A propos d'un cas et revue de la littérature [Ring chromosome 9. Case report and review of the literature].
     Ann Genet. 1988;31(4):250-3. French.
     
206. Van Maldergem L, Avni F, Mossay B, Herens C, Verloes A, Gillerot Y.
     Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities.
     Genet Couns. 1991;2(2):123-7. 
207. Majeed-Saidan MA, Joyce B, Khan M, Hamam HD.
     Congenital hypothyroidism: the Riyadh Military Hospital experience.
     Clin Endocrinol (Oxf). 1993 Feb;38(2):191-5.
208. Kontiokari T, Borgström GH, Ritanen-Mohammed UM.
     Rengaskromosomi 9 [Ring chromosome 9].
     Duodecim. 1995;111(5):439-41. Finnish.
209. Lanzi G, Fazzi E, Veggiotti P, Pagliano E, Gariglio M, Bonaglia C, Landolfo S.
     Ring chromosome 9: an atypical case.
     Brain Dev. 1996 May-Jun;18(3):216-9.
     
210. Smith A, Evans WA, Woolnough H.
     Post-mortem studies on two patients with 1-2 band cytogenetic deletions: 10q26----qter and r(9)(p24q34).
     Ann Genet. 1989;32(4):220-4.
     
211. Maureen E, Mohandas TK, Kaback MM.
     Ring chromosome nine: variable phenotypic expression.
     Bocian Pediatr Res. 1977; 11:524.
212. Dickermann LH, Stallard R, Johnson WE.
     Variations in the phenotype associated with ring 9 mosaicism.
     Am J Hum Genet. 1983; 35:129.
213. Numabe H, Shimakazi T, Hoshino M et al.
     A case of a ring chromosome 9.
     Teratology. 1986; 34:481
     
214. Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, Marchi A, Tiepolo L.
     Ring chromosome 9 with a 9p22.3-p24.3 duplication.
     Eur J Pediatr. 1999 Oct;158(10):791-3.
     
215. Purandare SM, Lee J, Hassed S, Steele MI, Blackett PR, Mulvihill JJ, Li S.
     Ring chromosome 9 [r(9)(p24q34)]: a report of two cases.
     Am J Med Genet A. 2005 Oct 15;138A(3):229-35.
     
216. Chen CP, Lin CL, Chen LL, Lee CC, Wang W.
     Prenatal diagnosis of mosaic ring chromosome 9.
     Prenat Diagn. 2006 Sep;26(9):870-1.
     
217. Sheth J, Joshi R, Sheth F.
     Ring chromosome 9 in a dysmorphic child.
     Indian J Pediatr. 2007 May;74(5):507-8.
218. Ye ZC, Zhu XY, Zhao R, He XY, Zhang HJ, Li LP, Zhu YM.
     [Analysis of ring chromosome 9 syndrome with fluorescence in situ hybridization].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Oct;27(5):559-62. Chinese.
     
219. Aldemir O, Celik IH, Karaer K, Ceylaner G.
     Ring chromosome 9 in a newborn.
     Genet Couns. 2013;24(4):357-60.
     
220. Cavaliere ML, Rinaldi MM, Castelluccio P, Cioffi C, Vendemmia M, Vendemmia S.
     Phenotypic variability in the chromosome 9 ring.
     Acta Biomed Ateneo Parmense. 1997;68 Suppl 1:85-9.
     
221. Alao MJ, Laleye A, Adjagba M, Ayivi B, Darboux R.
     Ring 9 chromosome syndrome in black African infant.
     J Genet Disor Genet Rep 4:2. doi:10.4172/2327-5790.1000125.
222. Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD.
     The natural history of Cri du Chat Syndrome. A report from the Italian Register.
     Eur J Med Genet. 2006 Sep-Oct;49(5):363-83.
     
223. Lansky S, Daniel W, Fleiszar K.
     Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.
     J Med Genet. 1977 Feb;14(1):61-3.
     
224. Sparkes RS, Ling SM, Muller H.
     Ring 10 chromosome: 46,XX,r10(p15q26).
     Hum Genet. 1978 Sep 19;43(3):341-5.
     
225. Fryns JP, De Boeck K, Jaeken J, van den Berghe H.
     Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome.
     Hum Genet. 1978 Aug 31;43(2):239-44.
     
226. Simoni G, Rossella F, Dalprà L, Visconti G, Piria-Schwarz C.
     Ring chromosome 10 associated with multiple congenital malformations.
     Hum Genet. 1979 Oct 1;51(2):117-21.
     
227. Tsukino R, Tsuda N, Dezawa T, Ishii T, Koike M.
     Ring chromosome 10:46,XX,r(10)(p15 leads to q26).
     J Med Genet. 1980 Apr;17(2):148-50.
     
228. Michels VV, Driscoll DJ, Ledbetter DH, Riccardi VM.
     Phenotype associated with ring 10 chromosome: report of patient and review of literature.
     Am J Med Genet. 1981;9(3):231-7.
229. Serville F, Briault R, Taillemite JL, Despoisse S, Cotoni P, Broustet A.
     Chromosome 10 en anneau: 46,XX,r(10)(p15q26) [Ring chromosome 10: 46,XX,r(10)(p15q26)].
     Ann Genet. 1982;25(3):168-71.
     
230. Nakai H, Adachi M, Katsushima N, Yamazaki N, Sakamoto M, Tada K.
     Ring chromosome 10 and its clinical features.
     J Med Genet. 1983 Apr;20(2):142-4.
231. Kondo I, Shimakura Y, Hirano T, Kaneko M, Yabuta K.
     Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis.
     Clin Genet. 1984 Feb;25(2):196-200.
     
232. Shapiro SD, Hansen KL, Pasztor LM, DiLiberti JH, Jorgenson RJ, Young RS, Moore CM.
     Deletions of the long arm of chromosome 10.
     Am J Med Genet. 1985 Jan;20(1):181-96.
     
233. Kishi K, Ikeuchi T, Yamamoto K, Tonomura A, Sakurada N, Satoh Y.
     Report of a patient with a ring chromosome 10: mos45,XY,-10/46,XY/46,XY,r(10)(p15.3q26.3).
     Jinrui Idengaku Zasshi. 1985 Sep;30(3):233-8.
     
234. Calabrese G, Franchi PG, Stuppia L, Mingarelli R, Rossi C, Ramenghi L, Marino M, Morizio E, Peila R, Antonucci A, Palka G.
     A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
     J Med Genet. 1994 Oct;31(10):804-6.
     
235. Concolino D, Iembo MA, Moricca MT, Strisciuglio P, Marotta R, Rossi E, Giglio S.
     Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation.
     Am J Med Genet A. 2003 Dec 1;123A(2):201-3.
     
236. Gunnarsson C, Graffmann B, Jonasson J.
     Chromosome r(10)(p15.3q26.12) in a newborn child: case report.
     Mol Cytogenet. 2009 Dec 7;2:25.
     
237. Guilherme RS, Kim CA, Alonso LG, Honjo RS, Meloni VA, Christofolini DM, Kulikowski LD, Melaragno MI.
     Ring chromosome 10: report on two patients and review of the literature.
     J Appl Genet. 2013 Feb;54(1):35-41.
     
238. Čiuladaitė Ž, Burnytė B, Vansevičiūtė D, Dagytė E, Kučinskas V, Utkus A.
     Clinical, cytogenetic and molecular study of a case of ring chromosome 10.
     Mol Cytogenet. 2015 Apr 21;8:29.
     
239. Pruccoli J, Graziano C, Locatelli C, Maltoni L, Sheikh Maye HA, Cordelli DM.
     Expanding the neurological phenotype of ring chromosome 10 syndrome: A case report and review of the literature.
     Genes (Basel). 2021 Sep 26;12(10):1513.
     
240. Christopoulou G, Tzetis M, Konstantinidou AE, Tsezou A, Kanavakis E, Kitsiou-Tzeli S, Velissariou V.
     Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.
     Eur J Med Genet. 2012 Jan;55(1):75-9.
     
241. Sybert VP, Pagon RA, Donlan M, Bradley CM.
     Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.
     J Pediatr. 1990 Apr;116(4):581-6.
     
242. Valente M, Muller H, Sparkes RS.
     Ring 11 chromosome (46,XX,r11(p15q25)).
     Hum Genet. 1977 May 10;36(3):345-50.
     
243. Niikawa N, Jinno Y, Tomiyasu T, Fukushima Y, Kudo K.
     Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome.
     Ann Genet. 1981;24(3):172-5.
     
244. Cousineau AJ, Higgins JV, Scott-Emuakpor AB, Mody G.
     Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q.
     Am J Med Genet. 1983 Jan;14(1):29-35.
     
245. Romain DR, Gebbie OB, Parfitt RG, Columbano-Green LM, Smythe RH, Chapman CJ, Kerr A.
     Two cases of ring chromosome 11.
     J Med Genet. 1983 Oct;20(5):380-2.
     
246. Daniele S, Pecorelli F, Tiepolo L, Armellini R, Liotti FS.
     Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.
     Graefes Arch Clin Exp Ophthalmol. 1986;224(3):317-20.
     
247. Palka G, Verrotti A, Peca S, Mosca L, Lombardo G, Verrotti M, Morgese G.
     Ring chromosome 11. A case report and review of the literature.
     Ann Genet. 1986;29(1):55-8.
     
248. Fagan K, Suthers GK, Hardacre G.
     Ring chromosome 11 and café-au-lait spots.
     Am J Med Genet. 1988 Aug;30(4):911-6.
     
249. Mohamed AN, Ebrahim SA, Aatre R, Qureshi F, Jacques SM, Evans MI.
     Prenatal diagnosis of a de novo ring chromosome 11.
     Am J Med Genet. 2001 Sep 1;102(4):368-71.
     
250. Carella M, Spreafico F, Palumbo O, Storlazzi CT, Tabano S, Miozzo M, Miglionico L, Calvano S, Sindici G, Gamba B, Impera L, Collini P, Zelante L, Radice P, Perotti D.
     Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies.
     Am J Med Genet A. 2010 Jul;152A(7):1756-63.
     
251. Hansson KB, Gijsbers AC, Oostdijk W, Rehbock JJ, de Snoo F, Ruivenkamp CA, Kant SG.
     Molecular and clinical characterization of patients with a ring chromosome 11.
     Eur J Med Genet. 2012 Dec;55(12):708-14.
     
252. Zhang H, Feng C, Tang SQ.
     [Wilms' tumor and ring chromosome 11 in a child].
     Zhongguo Dang Dai Er Ke Za Zhi. 2012 Dec;14(12):993-4. Chinese.
     
253. Lange R, Von Linsingen C, Mata F, Moraes AB, Arruda M, Vieira Neto L.
     Endocrine abnormalities in ring chromosome 11: a case report and review of the literature.
     Endocrinol Diabetes Metab Case Rep. 2015;2015:150085.
     
254. Peng Y, Ma R, Zhou Y, Xia Y, Wen J, Zhang Y, Guo R, Li H, Pan Q, Zhang R, Tang C, Liang D, Wu L.
     De novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.
     Mol Cytogenet. 2015 Nov 9;8:88.
     
255. Galvão Gomes A, Paiva Grangeiro CH, Silva LR, Oliveira-Gennaro FG, Pereira CS, Joaquim TM, Panepucci RA, Squire JA, Martelli L.
     Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical jacobsen syndrome.
     Mol Syndromol. 2017 Jan;8(1):45-49.
256. Hamerton JL, Ray M, Douglas GR.
     Chromosome banding techniques in clinical cytogenetics: Report of four cases irresolvable by conventional methods: Chromosome identifications.
     Nobel Symp 1973; 23(1):209-213.
257. Scribanu N, McCullars EB, Baumiller RC, Colon AR.
     The syndrome of ring chromosome 12.
     Am J Med Genet. 1980;5(2):165-70.
258. Zuffardi O, Danesino C, Poloni L, Pavesi F, Bianchi C, Gargantini L.
     Ring chromosome and latent centromeres.
     Cytogenet Cell Genet. 1980;28(3):151-7.
     
259. Park JP, Graham JM Jr, Andrews PA, Wurster-Hill DH.
     Ring chromosome 12.
     Am J Med Genet. 1988 Feb;29(2):437-40.
     
260. Hajianpour MJ, Hajianpour AK, Habibian R, Wohlmuth C.
     Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.
     Am J Med Genet. 1996 May 17;63(2):335-9.
     
261. Parmar RC, Muranjan MN, Kotvaliwale S, Sharma S, Bharucha BA.
     Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.
     Am J Med Genet A. 2003 Mar 15;117A(3):275-7.
     
262. Zen PRG, Pinto LLC, Graziadio C, Pereira VB, Paskulin GA.
     Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.
     Clin Dysmorphol. 2005 Jul;14(3):141-143.
     
263. Martin JR, Wold A, Taylor HS.
     Ring chromosome 12 and severe oligospermia: a case report.
     Fertil Steril. 2008 Aug;90(2):443.e13-5.
     
264. Nik-Zainal S, Cotter PE, Willatt LR, Abbott K, O'Brien EW.
     Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male.
     Eur J Med Genet. 2011 Jan-Feb;54(1):97-101.
     
265. Chen CP.
     Detection of mosaic ring chromosome 12 or 46,XY,r(12) (p13.3q24.33)/46, XY in a 37-year-old male associated with oligospermia but no other apparently phenotypic abnormalities.
     Taiwan J Obstet Gynecol. 2024 Jul;63(4):581-583.
266. Gerald PS, Warner S, Singer JD, Corcoran PA, Umansky I.
     A ring D chromosome and anomalous inheritance of haptoglobin type.
     J Pediatr. 1967 Feb;70(2):172-9.
267. Reisman LE, Darnell A, Murphy JW.
     Abanormalities with ring chromosome.
     Lancet. 1965 Aug 28;2(7409):445.
     
268. Bloom GE, Gerald PS, Reisman LE.
     Ring D chromosome: a second case associated with anomalous haptoglobin inheritance.
     Science. 1967 Jun 30;156(3783):1746-8.
     
269. Hollowell JG, Littlefield LG, Dharmkrong-AT A, Folger GM, Heath CW Jr, Bloom GE.
     Ring 13 chromosome with normal haptoglobin inheritance.
     J Med Genet. 1971 Jun;8(2):222-6.
     
270. Coffin GS, Wilson MG.
     Ring chromosome D (13).
     Am J Dis Child. 1970 Apr;119(4):370-3.
     
271. Fitzgerald PH.
     Ring chromosome 13 and haptoglobin heterozygosity.
     Clin Genet. 1973;4(1):25-7.
     
272. Hoo JJ, Obermann U, Cramer H.
     The behavior of ring chromosome 13.
     Humangenetik. 1974;24(3):161-71.
     
273. Niebuhr E.
     Reexamination of a family with a t(13q14q) and a ring D(13) child.
     Ann Genet. 1973 Sep;16(3):199-202.
     
274. Zink U, Rix R, Grosse KP, Schwanitz G.
     Ringchromosom D13-Kasuistik und Ubersicht [Ring chromosome D13-case history and survey (author's transl)].
     Klin Padiatr. 1973 May;185(3):192-7. German.
     
275. Tolksdorf M, Goll U, Wiedemann HR, Pfeiffer RA.
     Die Symptomatik von Ringchromosomen der D-Gruppe. (Zwei neue Beobachtungen des Typs 13r) [Symptomatology of the ring chromosomes of the D group. (2 new observations of type 13r)].
     Arch Kinderheilkd. 1970;181(3):282-95. German.
     
276. Fryns JP, Deoover J, Van den Berghe H.
     Malformative syndrome with ring chromosome 13.
     Humangenetik. 1974;24(3):235-40.
     
277. Kuroki Y, Toyota J.
     Ring 13 chromosome in an infant with congenital malformations (author's transl).
     Jinrui Idengaku Zasshi. 1974 Jun;19(1):77-8.
     
278. Schmid W, Mühlethaler JP, Briner J, Knechtli H.
     Ring chromosome 13 in a polymalformed anencephalic.
     Humangenetik. 1975;27(1):63-6.
     
279. Fried K, Rosenblatt M, Mundel G, Krikler R.
     Ring chromosome 13 syndrome.
     Clin Genet. 1975 Mar;7(3):203-8.
280. Niebuhr E, Ottosen J.
     Ring chromosome D (13) associated with multiple congenital malformations.
     Ann Genet. 1973 Sep;16(3):157-66.
     
281. Magenis RE, Wyandt HE, Overton KM, Macfarlane J.
     Parental origin of a ring 13 chromosome in a female with multiple anomalies.
     Hum Genet. 1976 Jul 27;33(2):181-6.
     
282. Lehrke R, Thelen T, Lehrke R Jr.
     Syndrome associated with group-D chromosome deletions.
     Lancet. 1971 Jul 10;2(7715):98-9.
     
283. Mccandless A, Walker S.
     D13 ring chromosome syndrome.
     Arch Dis Child. 1976 Jun;51(6):449-53.
     
284. Neimann N, Ducas J, Gilgenkrantz S, Peters A.
     Un cas de chromosome eu annau du groupe 13-15.
     Arch Franc Ped. 1967; 24:584.
285. Lejeune J, Lafourcade J, Berger R, Cruveiller J, Rethoré MO, Dutrillaux B, Abonyi D, Jérôme H.
     Le phénotype (Dr): etude de trois cas de chromosomes D en anneau [The Dr phenotype: a study of threee cases with a ring D chromosome].
     Ann Genet. 1968 Jun;11(2):79-87. French.
286. Allderdice PW, Davis JG, Miller OJ, Klinger HP, Warburton D, Miller DA, Allen FH Jr, Abrams CA, McGilvray E.
     The 13q-deletion syndrome.
     Am J Hum Genet. 1969 Sep;21(5):499-512.
     
287. Orbeli DJ, Lurie IW, Goroshenko JL.
     The syndrome associated with the partial D-monosomy. Case report and review.
     Humangenetik. 1971;13(4):296-308.
     
288. Mikkelsen M, Niebuhr E.
     A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q).
     Ann Genet. 1969 Mar;12(1):51-6.
     
289. Benadiba M, Hamon J, Fausser C, Helmlinger W.
     Anomalie chromosomique et déficience mentale. Etude d'une observation de chromosome 15 en anneau [Chromosomal anomaly and mental deficiency. Study of one case of a ringed chromosome 15 (author's transl)].
     Neuropsychiatr Enfance Adolesc. 1981 Nov-Dec;29(11-12):631-9. French.
     
290. Biles AR Jr, Lüers T, Sperling K.
     D1 ring chromosome in newborn with peculiar face, polydactyly, imperforate anus, arrhinencephaly, and other malformations.
     J Med Genet. 1970 Dec;7(4):399-401.
     
291. Grace E, Drennan J, Colver D, Gordon RR.
     The 13q- deletion syndrome.
     J Med Genet. 1971 Sep;8(3):351-7.
     
292. Salamanca F, Buentello L, Armendares S.
     Ring D 1 chromosome with remarkable morphological variation in a boy with mental retardation.
     Ann Genet. 1972 Sep;15(3):183-6.
293. Lowry RB, Dill FJ.
     Ring 13 chromosome associated with microcephaly, congenital heart defect, intrauterine growth retardation, and abnormal skin pigmentation.
     Birth Defects Orig Artic Ser. 1977;13(3B):216-22.
     
294. Sparkes RS, Muller H, Kihara H, Carrel RE.
     Ring 13 or ring 14: distinction by banding analysis of a culture derived from tissue frozen for 10 years.
     Hum Genet. 1977 Oct 14;38(3):365-6.
     
295. Verma RS, Dosik H, Chowdhry IH, Jhaveri RC.
     Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome.
     Am J Dis Child. 1978 Oct;132(10):1018-21.
     
296. Benítez J, Ramos MC, Escorihuela R, Hernández Merino H.
     Anillo del cromosoma 13 con conservación de 13 p. Presentación de un caso y revisión de la literatura [Ring chromosome 13 with. 13p. preserved. A case report and review of literature (author's transl].
     An Esp Pediatr. 1978 Mar;11(3):253-62. Spanish.
     
297. Carr DH, Gedeon MM.
     Q-banding of chromosomes in human spontaneous abortions.
     Can J Genet Cytol. 1978 Sep;20(3):415-25.
     
298. Hernandez A, Garcia-Cruz D, Plascencia L, Nazara Z, Rivera H, Sanchez-Corona J, Cantu JM.
     Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34).
     Ann Genet. 1979;22(4):221-4.
     
299. Hevia A, Bullon M, Novales A, Fernandez-Novoa C, San Martin V, Galera H.
     Chromosome 13 en anneau [Ring chromosome 13 (author's transl)].
     Ann Genet. 1979;22(4):232-3. French.
     
300. Lagergren M, Börjeson M, Mitelman F.
     Prophase analysis of ring chromosome 13--an attempt at phenotype-karyotype correlation.
     Hereditas. 1980;93(2):231-3.
     
301. Noel B, Quack B, Rethore MO.
     Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.
     Clin Genet. 1976 Jun;9(6):593-602.
     
302. Bliumina MG, Demintseva VS.
     Deti s kol'tsevoĭ khromosomoĭ 13 [Children with ring chromosome 13].
     Pediatriia. 1981 May;(5):51-2. Russian.
     
303. Hammond A, Bijlsma JB.
     Een patiënt met een ringchromosoom 13 [A patient with ring chromosome 13].
     Ned Tijdschr Geneeskd. 1981 May 9;125(19):752-5. Dutch.
     
304. Steinbach P, Drews K, Horstmann W, Barbi G, Scholz W.
     Two cases of ring chromosome 13. Chromosome banding patterns and mosaic configuration.
     Ann Genet. 1981;24(3):152-7.
     
305. Matsuishi T, Millar A, Yamaguchi T, Endo K.
     Ringchromosom-13-Syndrom bei einem erwachsenen Mann mit leichter mentaler Retardierung.
     http://matsuishi-lab.org/german/chromosome13EN_DE.html
     
306. Cossu P, Diana G, Mameli M, Cardia S, Milia A, Floris G, Cao A.
     A case of D13 ring chromosome.
     Hum Genet. 1979 Jan 19;46(1):111-4.
     
307. Jones IM, Palmer CG, Weaver DD, Hodes ME.
     Study of two cases of ring 13 chromosome using high-resolution banding.
     Am J Hum Genet. 1981 Mar;33(2):252-61.
     
308. Antich J, Plaza J, Geán E.
     Cromosoma 13 en anillo con malformaciones múltiples [Ring chromosome 13 and multiple malformations (author's transl)].
     An Esp Pediatr. 1981 Nov;15(5):469-73. Spanish.
     
309. Martin NJ, Harvey PJ, Pearn JH.
     The ring chromosome 13 syndrome.
     Hum Genet. 1982;61(1):18-23.
     
310. Benn A, Warburton D, Byrne JM, Rudelli R, Shonhaut A, Yeboa K, Mootabar H, Hsu LY.
     A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism.
     Prenat Diagn. 1983 Oct;3(4):297-302.
311. de Almeida JC, Llerena JC Jr, Gomes DM, Martins RR, Pereira ET.
     Ring 13 in an adult male with a 13:13 translocation mother.
     Ann Genet. 1983;26(2):112-5.
     
312. Mules EH, Stamberg J, Jabs EW, Leonard CO.
     Two different structural abnormalities of chromosome 13 in offspring of chromosomally normal parents with two fragile sites.
     Clin Genet. 1983 May;23(5):380-5.
     
313. Ventruto V, Rinaldi A, Renda S, Stabile M, Rinaldi MM, Cavaliere ML, Conte N, Aveta V.
     Ring (13),t(2;6) associated with familial fragile (16).
     J Med Genet. 1984 Jun;21(3):233.
     
314. Parcheta B, Wisniewski L, Piontek E, Szymanska J, Skawinski W, Wermenski K.
     Clinical features in a case with ring chromosome 13.
     Eur J Pediatr. 1985 Nov;144(4):409-12.
     
315. Wilson GN, Dasouki M, Barr M Jr.
     Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus.
     Am J Med Genet Suppl. 1986;2:65-72.
     
316. McCorquodale MM, Kolacki P, Kurczynski TW, Baugh E.
     Tissue-specific mosaicism for the stability of a ring 13 chromosome.
     J Ment Defic Res. 1986 Dec;30 ( Pt 4):389-99.
     
317. Zergollern L, Barisić I.
     Prstenasti kromosom 13 (prikaz bolesnice) [Ring chromosome 13 (case report)].
     Lijec Vjesn. 1987 Apr-May;109(4-5):146-9. Croatian.
     
318. Diallo JS, Afoutou JM, Balo K.
     Rétinoblastome: premier cas de chromosome 13 en anneau en Afrique noire [Retinoblastoma: first case with a ring chromosome 13 in black Africa].
     Rev Int Trach Pathol Ocul Trop Subtrop Sante Publique. 1987;(64):183-6. French.
     
319. Díaz-Cardama Sousa I, Mora Gandarillas I, Vázquez Rodríguez M, Viso Lorenzo A, Alonso Villa MJ, Fernández Toral J.
     Cromosoma 13 en anillo (tipo I) 45,XY, -13/46, XY,r(13)(p11:q34) [Ring chromosome 13 (type I) 45,XY,-13/46, XY,r(13)(p11:q34)].
     An Esp Pediatr. 1990 Jun;32(6):556-8. Spanish.
     
320. Voullaire LE, Petrovic V, Sheffield LJ, Campbell P.
     Two forms of ring 13 in a child with rhabdomyosarcoma.
     Am J Med Genet. 1991 Jun 1;39(3):285-7.
     
321. Brandt CA, Hertz JM, Petersen MB, Vogel F, Noer H, Mikkelsen M.
     Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.
     J Med Genet. 1992 Oct;29(10):704-8.
     
322. Hou JW, Liu CH, Wang TR, Zhu HM, Jiang S, Sciorra LJ, Lee ML.
     Mosaic ring chromosome 13 analyzed by fluorescence in situ hybridization: report of a case.
     J Formos Med Assoc. 1992 Nov;91(11):1108-11.
     
323. Santolaya J, McCorquodale MM, Torres W, Meyer WJ, Gauthier D, Lemery D.
     Ultrasonographic prenatal diagnosis of the 13q-syndrome.
     Fetal Diagn Ther. 1993 Jul-Aug;8(4):261-7.
     
324. Goldsmith CL, Tawagi GF, Carpenter BF, Speevak MD, Hunter AG.
     Mosaic r(13) in an infant with aprosencephaly.
     Am J Med Genet. 1993 Sep 15;47(4):531-3.
     
325. Doco-Fenzy M, Navrocki B, Cornillet P, Sabouraud P, Robillard P, Gruson N, Gaillard D, Adnet JJ.
     Use of chromosome painting for marker chromosome identification in two children with congenital disorders.
     Bull Assoc Anat (Nancy). 1994 Jun;78(241):9-13.
     
326. Guala A, Dellavecchia C, Mannarino S, Rognone F, Giglio S, Minelli A, Danesino C.
     Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.
     Am J Med Genet. 1997 Oct 31;72(3):319-23.
     
327. Boduroglu K, Alikaşifoglu M, Tunçbilek E, Uludogan S.
     Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition.
     Clin Dysmorphol. 1998 Oct;7(4):299-301.
     
328. Brown S, Gersen S, Anyane-Yeboa K, Warburton D.
     Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.
     Am J Med Genet. 1993 Jan 1;45(1):52-9.
     
329. Fryns JP, Devriendt K, Legius E.
     Skin pigmentation anomalies in ring chromosome 13.
     Genet Couns. 1998;9(2):155-6.
     
330. Filous A, Rasková D, Kodet R.
     Retinal detachment in an infant with the ring chromosome 13 syndrome.
     Acta Ophthalmol Scand. 1998 Dec;76(6):739-41.
     
331. Gentile M, Buonadonna AL, Cariola F, Fiorente P, Valenzano MC, Guanti G.
     Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).
     J Med Genet. 1999 Jan;36(1):77-82.
     
332. Talvik I, Ounap K, Bartsch O, Ilus T, Uibo O, Talvik T.
     Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter.
     Am J Med Genet. 2000 Aug 28;93(5):399-402.
     
333. Heaven CJ, Lalloo F, Mchale E.
     Keratoconus associated with chromosome 13 ring abnormality.
     Br J Ophthalmol. 2000 Sep;84(9):1079.
     
334. Chen CP, Chern SR, Lee CC, Chen WL, Wang W.
     Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly.
     Prenat Diagn. 2001 Feb;21(2):102-5.
335. Morrissette JD, Celle L, Owens NL, Shields CL, Zackai EH, Spinner NB.
     Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere.
     Am J Med Genet. 2001 Feb 15;99(1):21-8.
     
336. Venugopalan P, Kenue RK.
     Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies.
     Saudi Med J. 2001 Sep;22(9):800-3.
     
337. Ruiz Del Prado M, Alfonso Landa J, Cristóbal Navas C, Blázquez Regidor J, Pérez Marrodán JA, Martín Nuño A.
     Cromosomopatía 13 en anillo y déficit congénito de factores de coagulación [Ring chromosome 13 and congenital coagulation factor deficiency].
     An Esp Pediatr. 2001 Apr;54(4):411-2. Spanish.
     
338. Moreno García M.
     Cromosoma 13 en anillo [Ring 13 chromosome].
     An Esp Pediatr. 2001 Jul;55(1):95. Spanish.
339. Lorentz CP, Jalal SM, Thompson DM, Babovic-Vuksanovic D.
     Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies.
     Am J Med Genet. 2002 Jul 22;111(1):61-7.
     
340. Liang DS, Wu LQ, Long ZG, Pan Q, Dai HP, Xia JH.
     [Chromosome analysis and phenotype location analysis on a patient with the karyotype of 45, XX, -13/46, XX, r(13)/46, XX, r(13;13)/47, XX, 2r(13)(p13q32.3)].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Aug;21(4):392-4. Chinese.
     
341. Bedoyan JK, Flore LA, Alkatib A, Ebrahim SA, Bawle EV.
     Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.
     Am J Med Genet A. 2004 Sep 1;129A(3):316-20.
     
342. Sankar VH, Phadke SR.
     Ring chromosome 13 in an infant with ambiguous genitalia.
     Indian Pediatr. 2006 Mar;43(3):258-60.
     
343. Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A.
     Chromosome deletions in 13q33-34: report of four patients and review of the literature.
     Am J Med Genet A. 2008 Feb 1;146A(3):337-42.
     
344. Liao C, Fu F, Zhang L.
     Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: a case report.
     J Med Case Rep. 2011 Mar 11;5:99.
     
345. Sandal G, Caliskan D, Ormeci AR, Oztas S.
     A case of ring chromosome 13 with ambiguous genitalia and primary hypothyroidism.
     Genet Couns. 2012;23(4):529-32.
     
346. Kawasaki T, Kamimae A, Maeda J, Shinohara T, Tomita H.
     A case with No. 15 ring chromosome.
     J Pediatr Prac 1975; 38:544. Japanese
     
347. Uwineza A, Pierquin G, Gaillez S, Jamar M, Hellin AC, Caberg JH, Bours V.
     Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.
     Genet Couns. 2013;24(2):193-200.
     
348. Su PH, Chen CP, Su YN, Chen SJ, Lin LL, Chen JY.
     Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13.
     Genet Mol Res. 2013 Apr 25;12(2):1311-7.
     
349. Chen CP, Tsai CH, Chern SR, Wu PS, Su JW, Lee CC, Chen YT, Chen WL, Chen LF, Wang W.
     Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.
     Gene. 2013 Oct 15;529(1):163-8.
     
350. Abdallah-Bouhjar IB, Mougou-Zerelli S, Hannachi H, Gmidène A, Labalme A, Soyah N, Sanlaville D, Saad A, Elghezal H.
     Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients.
     J Pediatr Genet. 2013 Sep;2(3):147-55.
     
351. Ozsu E, Yeşiltepe Mutlu G, Ipekçi B.
     Ring chromosome 13 and ambiguous genitalia.
     J Clin Res Pediatr Endocrinol. 2014;6(2):122-4.
352. Charalsawadi C, Maisrikhaw W, Praphanphoj V, Wirojanan J, Hansakunachai T, Roongpraiwan R, Sombuntham T, Ruangdaraganon N, Limprasert P.
     A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature.
     Cytogenet Genome Res. 2014;144(1):1-8.
     
353. Kaylor J, Alfaro M, Ishwar A, Sailey C, Sawyer J, Zarate YA.
     Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.
     Cytogenet Genome Res. 2014;144(2):104-8.
     
354. Minasi LB, Pinto IP, de Almeida JG, de Melo AV, Cunha DM, Ribeiro CL, Silva GP, Brasil MG, Silva DM, da Silva CC, da Cruz AD.
     Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches.
     Genet Mol Res. 2015 Mar 6;14(1):1692-9.
355. Çakmaklı S, Çankaya T, Gürsoy S, Koç A, Kırbıyık Ö, Kılıçarslan ÖA, Özer E, Erçal D, Bozkaya ÖG.
     Two cases with ring chromosome 13 at either end of the phenotypic spectrum.
     Cytogenet Genome Res. 2017;153(4):175-180.
     
356. Zhao XR, Han X, Wang YL, Hu WJ.
     Molecular and cytogenetic characterization of a fetus with mosaic ring chromosome 13: A very rare case.
     Chin Med J (Engl). 2017 Dec 20;130(24):3007-3008.
     
357. Fan MR, Wang GJ, Yu XY.
     [Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case].
     Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jun;20(6):485-489. Chinese.
     
358. Nikitina TV, Menzorov AG, Kashevarova AA, Gridina MM, Khabarova AA, Yakovleva YS, Lopatkina ME, Pristyazhnyuk IE, Vasilyev SA, Serov OL, Lebedev IN.
     Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13.
     Stem Cell Res. 2018 Dec;33:260-264.
359. Yin T, Zheng A, Tan J, Zhang R, Gu Y, Wang L.
     [Genetic analysis of a patient with premature ovarian failure and a 45,XX,-13/46,XX,r(13)(p13q34)/46,XX,r(13;13) karyotype].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Dec 10;35(6):872-874. Chinese.
     
360. Cammarata-Scalisi F, Briceño Y, Cegarra E, Montilla D.
     Cromosoma 13 en anillo.
     Bol Med Hosp Infant Mex. 2019;76(2):100-103.
     
361. Petter C, Moreira LMA, Riegel M.
     Towards new approaches to evaluate dynamic mosaicism in ring chromosome 13 syndrome.
     Case Rep Genet. 2019 Dec 28;2019:7250838.
     
362. Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Lee CC, Chen LF, Wang W.
     Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis.
     Taiwan J Obstet Gynecol. 2020 Jan;59(1):130-134.
     
363. Chen CP, Chen CY, Chern SR, Chen SW, Wu FT, Chen WL, Lee MS, Wang W.
     Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin.
     Taiwan J Obstet Gynecol. 2021 Jul;60(4):771-774.
     
364. Hu XN, Li LL, Shi QY, Hu ZM, Zhang HG, Jiang YT, Liu RZ.
     Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature.
     Taiwan J Obstet Gynecol. 2021 May;60(3):554-558.
     
365. Okabe A, Palencia D, Trejo-Solis D, Duarte-Martinez A, López-Bernal A, Villalba Salgado L, Labán F, Tirado CA.
     A case study of ring chromosome 13 in a pediatric patient.
     J Assoc Genet Technol. 2021;47(2):75-77.
     
366. Chanes B, Arriaza M, Lacassie Y.
     Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.
     Am J Med Genet A. 2021 Apr;185(4):1242-1246.
     
367. Kaya M, Suer I, Kalayci T, Karaman B, Ozturk S, Palanduz S.
     Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13.
     Scott Med J. 2022 Nov;67(4):173-177.
     
368. Zamanian M, Sajadi H, Tahsili M, Borjian Boroujeni P, Almadani N.
     Mosaic ring chromosome 13 presented with isolated male infertility: Case report.
     Int J Fertil Steril. 2023 Apr 1;17(3):215-217.
     
369. Huang TJ, Chen CP, Lin CJ, Wu FT, Chen SW, Lai ST, Chen ZJ.
     The correlation with abnormal fetal outcome and a high level of amniotic fluid alpha-fetoprotein in mid-trimester.
     Taiwan J Obstet Gynecol. 2023 Nov;62(6):863-868.
     
370. Cuadrado Martín M, Boldova Aguar C, Carrasco Lorente S, Martínez Laborda S, López-Pisón J, Baldellou Vázquez A, Labarta Aizpún J, Marco Tello A, Rebage Moisés V.
     Monosomía r(13): a propósito de una nueva observación [Monosomy r(13). Report of a new case].
     An Esp Pediatr. 2000 Dec;53(6):592-5. Spanish.
     
371. Oka S, Nakagome Y, Teramura F, Hosono F, Katumata M.
     Trisomy/partial monosomy mosaicism of no. 13 pair [46, XX,--13, + rob(13q13q)/46, XX, r(13) (pllq34)].
     Jinrui Idengaku Zasshi. 1977 Sep;22(2-3):73-8.
     
372. Duarte MHO, Martelli LR, Ramos ES, Ferreira RAP, Ferrrari I.
     46,XX,r(13)/46,XX, iso psu dic(13)? mosaicism.
     Rev Brasil Genet 1990;13:825-33.
     
373. Jalal SM, Martin JA, Benjamin TR, Kukolich MK, Townsend-Parcham JK.
     Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring.
     Ann Genet. 1990;33(3):173-5.
     
374. Duckett DP, Porter HJ, Young ID.
     Trisomy/partial monosomy 13 mosaicism associated with relatively mild clinical malformation.
     Ann Genet. 1992;35(2):113-6. https://pubmed.ncbi.nlm.nih.gov/1524408/
     
375. McCaw BK, Hecht F, Harnden DG, Teplitz RL.
     Somatic rearrangement of chromosome 14 in human lymphocytes.
     Proc Natl Acad Sci U S A. 1975 Jun;72(6):2071-5.
     
376. Dzarlieva R.
     Multiple congenital malformations in a child with ring 14 chromosome.
     God Zb Med Fak Skopje. 1977;23:285-91.
     
377. Jalbert P, Sele B, Jalbert H, Sirand L, Pison H, Couturier J.
     Chromosome 14 en anneau chez des jumelles monozygotes [Ring chromosome 14 in monozygotic twins].
     Ann Genet. 1977 Mar;20(1):59-62. French.
     
378. Iselius L, Ritzén M, Bui TH, Olsson K, Eklöf O.
     Ring chromosome 14 in a mentally retarded girl.
     Acta Paediatr Scand. 1980 Nov;69(6):803-6.
     
379. Amarose AP, Dorus E, Huttenlocher PR, Csaszar S.
     A ring 14 chromosome with deleted short arm.
     Hum Genet. 1980;54(2):145-7.
     
380. Schmidt R, Eviatar L, Nitowsky HM, Wong M, Miranda S.
     Ring chromosome 14: a distinct clinical entity.
     J Med Genet. 1981 Aug;18(4):304-7.
381. Triolo O, Serra A, Bova R, Carlo Stella N, Caruso P.
     Infant male with ring chromosome 14.
     Ann Genet. 1981;24(4):236-8.
     
382. Riley SB, Buckton KE, Ratcliffe SG, Syme J.
     Inheritance of a ring 14 chromosome.
     J Med Genet. 1981 Jun;18(3):209-13.
383. Lippe BM, Sparkes RS.
     Ring 14 chromosome: association with seizures.
     Am J Med Genet. 1981;9(4):301-5.
     
384. Fryns JP, Petit P, Kleczkowska A, De Muelenaere A, ven den Berghe H.
     Ring chromosome 14 syndrome.
     Ann Genet. 1982;25(3):179-80.
     
385. Ieshima A, Takeshita K, Yamamoto K.
     Ring 14 syndrome with decreased bone mineral content in two pubertal girls.
     Jinrui Idengaku Zasshi. 1983 Mar;28(1):35-43.
     
386. Guillot M, Dufier JL, Perignon F, Lenoir G, de Grouchy J, Pinaudeau Y.
     Anomalies oculaires du phénotype 46,XY,r(14) (chromosome 14 en anneau) [Ocular anomalies in phenotype 46,XY,r(14) (ring chromosome 14)].
     Arch Fr Pediatr. 1983 May;40(5):433. French.
     
387. Fryns JP, Kubien E, Kleczkowska A, Nawrocka-Kanska B, Van den Berghe H.
     Ring chromosome 14. A distinct clinical entity.
     J Genet Hum. 1983 Dec;31 Suppl 5:367-75.
     
388. Raoul O, Razavi F, Lescs MC, Bouhanna A.
     Chromosome 14 en anneau. I. Une observation de r(14) homogène [Ring chromosome 14. I. A case report on homogeneous r(14)].
     Ann Genet. 1984;27(2):88-90. French.
     
389. Gilgenkrantz S, Morali A, Vidailhet M, Saura R, Serville F, Fontan D, Moraine C.
     Le syndrome r(14). Trois nouvelles observations [The r(14) syndrome. 3 new observations].
     Ann Genet. 1984;27(2):73-8. French.
     
390. Rethoré MO, Caille B, Huet de Barochez Y, de Blois MC, Ravel A, Lejeune J.
     Chromosome 14 en anneau. II. Une observation de r(14) en mosaïque. Le phénotype r(14) [Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].
     Ann Genet. 1984;27(2):91-5. French.
     
391. Pangalos C, Velissariou V, Ghica M, Liacacos D.
     Ring-14 and trisomy 14q in the same child.
     Ann Genet. 1984;27(1):38-40.
     
392. Krawczun M, Melink G, Cervenka J.
     Ring chromosome 14 and immunoglobulin locus.
     Am J Med Genet. 1984 Feb;17(2):465-9.
     
393. Caille B, Rethoré MO, Raoul O, Huet de Barochez Y, Dufier JL, Roy C, Harpey JP, Valdes L, Noseda J.
     Deux nouvelles observations de chromosome 14 en anneau [2 new cases of ring chromosome 14].
     Ann Pediatr (Paris). 1985 May;32(5):441-6. French.
     
394. Clark DI, Howard PJ, Patterson A.
     Ocular findings in a patient with deletion short arm chromosome 5 (cri du chat) and ring chromosome 14.
     Trans Ophthalmol Soc U K (1962). 1986;105 ( Pt 6):723-5.
     
395. Portoian-Shuhaiber S, Al-Awadi S, Farag TI, Sundareshan TS, Jindal HR, Al-Rashied AA.
     Clinical findings in an Arab boy with ring (14)(mos 46,XY,r(14)/45,XY,-14).
     Ann Genet. 1986;29(2):122-4.
     
396. Angelova E, Mitreva B, Toncheva D.
     Ring chromosome 14 without deletion.
     Acta Paediatr Hung. 1987;28(1):59-62.
     
397. Gilgenkrantz S, Cabrol C, Lausecker C, Hartleyb ME, Bohe B.
     Le syndrome Dr. étude d'un nouveau cas (46, XX, 14r) [The Dr syndrome. Study of a further case (46, XX, 14r)].
     Ann Genet. 1971 Mar;14(1):23-31. French.
     
398. Howard PJ, Clark D, Dearlove J.
     Retinal/macular pigmentation in conjunction with ring 14 chromosome.
     Hum Genet. 1988 Oct;80(2):140-2.
     
399. Keyeux G, Gilgenkrantz S, Lefranc G, Lefranc MP.
     Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci.
     Hum Genet. 1989 Jun;82(3):219-22.
     
400. Duarte MH, Lison MP, Ferrari I, Soares LR, Fernandes RM.
     Epilepsia na síndrome do anel do cromossomo 14 [Epilepsy in ring chromosome 14 syndrome].
     Arq Neuropsiquiatr. 1989 Jun;47(2):205-11. Portuguese.
401. Cantú ES, Thomas IT, Frias JL.
     Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation.
     Clin Genet. 1989 Sep;36(3):189-95.
     
402. Matalon R, Supple P, Wyandt H, Rosenthal IM.
     Transmission of ring 14 chromosome from mother to two sons.
     Am J Med Genet. 1990 Aug;36(4):381-5.
     
403. Hofker MH, Smith S, Nakamura Y, Teshima I, White R, Cox DW.
     Physical mapping of probes within 14q32, a subtelomeric region showing a high recombination frequency.
     Genomics. 1990 Jan;6(1):33-8.
     
404. de Blois MC, Caille B, Rethoré MO, Dufier JL, Lejeune J.
     Syndrome r14 sans dysmorphie majeure [r14 syndrome without major dysmorphism].
     Ann Genet. 1990;33(3):155-8. French.
     
405. Zelante L, Torricelli F, Calvano S, Mingarelli R, Dallapiccola B.
     Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review.
     Ann Genet. 1991;34(2):93-7.
     
406. Rudenskaia GE, Pozdniakova EO, Kharlamov DA, Vcherashniaia IuI.
     Kol'tsevaia khromosoma 14 [Ring chromosome 14].
     Pediatriia. 1992;(3):66-9. Russian.
     
407. Shirasaka Y, Ito M, Okuno T, Fujii T, Nozaki K, Mikawa H.
     Ring 14 chromosome with complex partial seizures: a case report.
     Brain Dev. 1992 Jul;14(4):257-60.
     
408. Kristensen I, Wieg C, Friedrich UK.
     Ringkromosom 14 syndrom [The ring chromosome 14 syndrome].
     Ugeskr Laeger. 1992 Nov 9;154(46):3248-9. Danish.
     
409. Midro AT, Zadrozna-Tołwińska B.
     Padaczka u dziecka z chromosomem pierścieniowym 14 [Epilepsy in a child with ring chromosome 14].
     Neurol Neurochir Pol. 1993 Jan-Feb;27(1):99-104. Polish.
     
410. Wintle RF, Costa T, Haslam RH, Teshima IE, Cox DW.
     Molecular analysis redefines three human chromosome 14 deletions.
     Hum Genet. 1995 May;95(5):495-500.
     
411. Jean M, Rival JM, Mensier A, Mirallié S, Lopes P, Barrière P.
     Prenatal diagnosis of ring chromosome 14 after intracytoplasmic sperm injection.
     Fertil Steril. 1997 Jan;67(1):164-5.
     
412. Atchaneeyasakul LO, Linck L, Weleber RG.
     Microcephaly with chorioretinal degeneration.
     Ophthalmic Genet. 1998 Mar;19(1):39-48.
     
413. Campos Tristán C, Casado Durández P.
     Cromosoma 14 en anillo: presentación de un nuevo caso [Ring chromosome 14: report of a new case].
     An Esp Pediatr. 1998 Jun;48(6):650-2. Spanish.
     
414. Ono J, Nishiike K, Imai K, Otani K, Okada S.
     Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum.
     Pediatr Neurol. 1999 Jan;20(1):70-2.
415. Sparkes RS, Klisak I, Sparkes MC.
     Extended evaluation of previously reported twins with a ring 14 chromosome.
     Ann Genet. 1977 Dec;20(4):273-5.
     
416. Hisatomi T, Kira R, Sakamoto T, Inomata H.
     [A case of ring 14 chromosome with ocular manifestations].
     Nippon Ganka Gakkai Zasshi. 2000 Feb;104(2):121-4. Japanese.
     
417. van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC.
     Further delineation of the chromosome 14q terminal deletion syndrome.
     Am J Med Genet. 2002 Jun 1;110(1):65-72.
     
418. Vekemans M, Watters G, Tsipouras P, Bourrouilh H.
     Ring chromosome 14 identified by banding techniques.
     Am J Hum Genet. 1979; 31:115A, Abstract 386.
419. Varela MA, Sternberg WH.
     Ring chromosomes in two infants with congenital malformations.
     J Med Genet. 1969 Sep;6(3):334-41.
     
420. Abe T, Misawa S, Nishioka K, Okuno T, Nakagome Y.
     Formation of a ring chromosome 14 subsequent to the de novo 13/14 reciprocal translocation: a new cytogenetic evidence obtained by the nucleolus-organiser staining.
     Ann Genet (Paris) 1978;21:109-112.
421. McBride M, Oppenheimer EY.
     Ring 14 chromosome and choreoathetosis.
     Neurology 1980, 30:382.
     
422. Cox DW, Markovic VD, Teshima IE.
     Genes for immunoglobulin heavy chains and for alpha 1-antitrypsin are localized to specific regions of chromosome 14q.
     Nature. 1982 Jun 3;297(5865):428-30.
     
423. Linsley PS, Bech-Hansen NT, Siminovitch L, Cox DW.
     Analysis of a break in chromosome 14 mapping to the region of the immunoglobulin heavy chain locus.
     Proc Natl Acad Sci U S A. 1983 Apr;80(7):1997-2001.
     
424. Sears J, Lewandowski R, Kukolich M, Mankinen C.
     46,XY ring 4 found in a 64 year old male with borderline normal intelligence.
     Birth Defects 1978;14/6c:421.
     
425. Wang HY, Xue YQ, He YC, Zhang J, Wu YF, Ding YF.
     A case of ring chromosome 3 syndrome.
     Chin J Med Genet 2009; 26(5):594.
     
426. Morimoto M, Usuku T, Tanaka M, Otabe O, Nishimura A, Ochi M, Takeuchi Y, Yoshioka H, Sugimoto T.
     Ring chromosome 14 with localization-related epilepsy: three cases.
     Epilepsia. 2003 Sep;44(9):1245-9.
427. Li R, Zhao ZY, Sun LY, Zheng X.
     [Ring chromosome 14 syndrome: a case report].
     Zhonghua Er Ke Za Zhi. 2004 Dec;42(12):956-7. Chinese.
     
428. Hou JW.
     Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.
     Gung Med J. 2004 May;27(5):373-8.
429. Bahi-Buisson N, Ville D, Eisermann M, Plouin P, Kaminska A, Chiron C.
     L'épilepsie dans les aberrations chromosomiques [Epilepsy in chromosome aberrations].
     Arch Pediatr. 2005 Apr;12(4):449-58. French.
     
430. Schlade-Bartusiak K, Costa T, Summers AM, Nowaczyk MJ, Cox DW.
     FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures.
     Am J Med Genet A. 2005 Oct 15;138A(3):218-24.
431. Sheth FJ, Soni N.
     Ring chromosome 14 with epilepsy and development delay.
     Indian Pediatr. 2006 Aug;43(8):744-5.
     
432. Tzoufi M, Kanioglou C, Dasoula A, Asproudis I, Tsatsoulis A, Sismani C, Patsalis PC, Georgiou I, Syrrou M.
     Mosaic trisomy r(14) associated with epilepsy and mental retardation.
     J Child Neurol. 2007 Jul;22(7):869-73.
     
433. Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K.
     Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.
     Eur J Hum Genet. 2007 May;15(5):548-55.
     
434. Quenum-Miraillet G, Malan V, Martinovic J, Encha-Razavi F, Aral B, Texier I, Bonnefont JP, Vekemans M, Morichon-Delvallez N.
     Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia.
     Prenat Diagn. 2008 Jan;28(1):69-71.
     
435. Castermans D, Thienpont B, Volders K, Crepel A, Vermeesch JR, Schrander-Stumpel CT, Van de Ven WJ, Steyaert JG, Creemers JW, Devriendt K.
     Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
     Eur J Hum Genet. 2008 Oct;16(10):1187-92.
     
436. Ville D, DE Bellescize J, Nguyen MA, Testard H, Gautier A, Perrier J, Till M, DES Portes V.
     Ring 14 chromosome presenting as early-onset isolated partial epilepsy.
     Dev Med Child Neurol. 2009 Nov;51(11):917-22.
     
437. Pezzolo A, Gimelli G, Cohen A, Lavaggetto A, Romano C, Fogu G, Zuffardi O.
     Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.
     Hum Genet. 1993 Aug;92(1):23-7.
     
438. Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G.
     The ring 14 syndrome: clinical and molecular definition.
     Am J Med Genet A. 2009 Jun;149A(6):1116-24.
     
439. Meza-Espinoza JP, González-García JR, Nieto-Marín N, Patrón-Baro LI, González-Arreola RM, Arámbula-Meraz E, Benítez-Pascual J, De la Herrán-Arita AK, Norzagaray-Valenzuela CD, Valdez-Flores MA, Carrillo-Cázares TA, Picos-Cárdenas VJ.
     Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.
     Mol Cytogenet. 2024 Jul 18;17(1):17.
440. Guilherme RS, de Freitas Ayres Meloni V, Sodré CP, Christofolini DM, Pellegrino R, de Mello CB, Conlin LK, Hutchinson AL, Spinner NB, Brunoni D, Kulikowski LD, Melaragno MI.
     Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.
     Am J Med Genet A. 2010 Nov;152A(11):2865-9.
     
441. Giovannini S, Frattini D, Scarano A, Fusco C, Bertani G, Della Giustina E, Martinelli P, Orteschi D, Zollino M, Neri G, Gobbi G.
     Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome.
     Epileptic Disord. 2010 Sep;12(3):222-7.
     
442. Nucaro AL, Falchi M, Pisano T, Rossino R, Boscarelli F, Stoico G, Milia A, Montaldo C, Cianchetti C, Pruna D.
     Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH.
     Am J Med Genet A. 2010 Jan;152A(1):234-6.
443. Gardner JA, Haslett N, Giguere HG, Anderson KJ.
     Ring chromosome 14 with a terminal 14q32.33 deletion.
     J Assoc Genet Technol. 2024;50(2):69-73.
444. Sánchez J, García-Díaz L, Chinchón D, Antiñolo G.
     Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14.
     Case Rep Genet. 2012;2012:794075.
     
445. Zollino M, Ponzi E, Gobbi G, Neri G.
     The ring 14 syndrome.
     Eur J Med Genet. 2012 May;55(5):374-80.
     
446. Specchio N, Trivisano M, Serino D, Cappelletti S, Carotenuto A, Claps D, Marras CE, Fusco L, Elia M, Vigevano F.
     Epilepsy in ring 14 chromosome syndrome.
     Epilepsy Behav. 2012 Dec;25(4):585-92.
     
447. Ivanoff AE, Ivanoff CS.
     Ring chromosome 14 syndrome: what the dentist should know to manage children with r(14) effectively.
     Folia Med (Plovdiv). 2023 Feb 28;65(1):20-29.
448. Vasconcelos HM Jr, Vargas ME, Pennesi ME.
     Multimodal imaging of ring 14 syndrome associated maculopathy.
     Ophthalmic Genet. 2019 Dec;40(6):541-544.
449. Tajeran M, Baghbani F, Hassanzadeh-Nazarabadi M.
     A case of autism with ring chromosome 14.
     Iran J Public Health. 2013 Nov;42(11):1316-20.
     
450. Incecik F, Hergüner MO, Mert G, Erdem S, Altunbaşak S.
     Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report.
     Turk J Pediatr. 2013 Sep-Oct;55(5):549-51.
451. Ogawa K, Iyoda K.
     [The effectiveness of lamotrigine in a case of ring chromosome 14 with refractory epilepsy].
     No To Hattatsu. 2013 Sep;45(5):379-82. Japanese.
     
452. Imataka G, Noguchi M, Tsukada K, Takahashi T, Yamanouchi H, Arisaka O.
     Partial epilepsy and developmental delay in infant with ring chromosome 14.
     Genet Couns. 2013;24(1):81-3.
     
453. Zampini L, Zanchi P, D'Odorico L.
     Developing with ring 14 syndrome: a survey in different countries.
     Clin Linguist Phon. 2014 Nov;28(11):844-56.
     
454. Zampini L, Zanchi P, Rinaldi B, Novara F, Zuffardi O.
     Developmental trends of communicative skills in children with chromosome 14 aberrations.
     Eur J Pediatr. 2017 Apr;176(4):455-464.
455. Salter CG, Baralle D, Collinson MN, Self JE.
     Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.
     Am J Med Genet A. 2016 Apr;170A(4):1017-22.
     
456. Guilherme RS, Moysés-Oliveira M, Dantas AG, Meloni VA, Colovati ME, Kulikowski LD, Melaragno MI.
     Position effect modifying gene expression in a patient with ring chromosome 14.
     J Appl Genet. 2016 May;57(2):183-7.
     
457. Townsend JA, Lacour L, Scheuerle AE.
     Enamel pit defects and taurodontism in a patient with ring chromosome 14 and 47,XXX.
     J Dent Child (Chic). 2017 Jan 15;84(1):39-43.
458. Chen C, Wu LW, He F, Yang LF, Miao P, Ma YP, Wang XL, Peng J.
     [Ring 14 chromosome syndrome in a boy mainly manifesting as drug-resistant epilepsy].
     Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):949-951. Chinese.
     
459. Forabosco A, Dutrillaux B, Vassoler G, Lejeune J.
     Chromosome 15 en anneau: r(15). Identification par dénaturation ménagée [Ring 15 chromosome: r(15). Identification by controlled denaturation].
     Ann Genet. 1972 Dec;15(4):267-70. French.
     
460. Stoll C, Juif JG, Luckel JC, Lausecker C.
     Ring chromosome 15:r(15). Identification by R banding.
     Humangenetik. 1975;27(3):259-62.
461. Rumenić L, Joksimovi I, Anaf M.
     Ring chromosome 15 in child with a minor dysmorphism of phenotype.
     Hum Genet. 1976 Jul 27;33(2):187-8.
462. László J, Gaál M, Bösze P.
     Chromosome studies in ovarian hypoplasia.
     Clin Genet. 1976 Jan;9(1):61-70.
     
463. Ferrante E, Boscherini B, Bruni L, Vignetti P, Finocchi G.
     La sindrome r(15) (cromosoma 15 ad anello). Descrizione di un caso [The r(15) syndrome (ring chromosome 15). Description of a case].
     Minerva Pediatr. 1977 Nov 17;29(36):2163-8. Italian.
     
464. Fujita H, Matsumoto H.
     Ring chromosome 15; 46,XX,r(15) (p11q26) in a girl.
     Jinrui Idengaku Zasshi. 1978 Sep;23(3):233-7.
465. Schmid M, Henrichs I, Nestler H, Knörr-Gärtner H, Teller WM, Krone W.
     Analysis of banding patterns and mosaic configurations in a case of ring chromosome 15.
     Hum Genet. 1978 Apr 24;41(3):289-99.
     
466. Scheibenreiter S, Frisch H.
     Ein Kind mit Ringchromosom 15 [Ring chromosome 15 in a child (author's transl)].
     Wien Klin Wochenschr. 1978 Jan 6;90(1):22-5. German.
     
467. Fryns JP, Timmermans J, Hondt FD, François B, Emmery L, van den Berghe H.
     Ring chromosome 15 syndrome.
     Hum Genet. 1979 Sep 2;51(1):43-8.
     
468. Wiśniewski L, Pronicka E, Lech H, Niezabitowska A.
     The child with chromosome ring 15.
     Klin Padiatr. 1979 Jul;191(4):429-32.
     
469. Gardner RJ, Chewings WE, Holdaway MD.
     A ring 15 chromosome in a girl with minor abnormalities.
     N Z Med J. 1980 Mar 12;91(655):173-4.
     
470. Meinecke P, Koske-Westphal T.
     Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype.
     Clin Genet. 1980 Dec;18(6):428-33.
     
471. Kousseff BG.
     Ring chromosome 15 and failure to thrive.
     Am J Dis Child. 1980 Aug;134(8):798-9.
472. Ledbetter DH, Riccardi VM, Au WW, Wilson DP, Holmquist GP.
     Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability.
     Cytogenet Cell Genet. 1980;27(2-3):111-22.
     
473. Yunis E, Leibovici M, Quintero L.
     Ring (15) chromosome.
     Hum Genet. 1981;57(2):207-9.
     
474. Fryns JP, Jaeken J, Devlieger H, Debucquoy P, Eggermont E, Van den Berghe H.
     Ring chromosome 15 syndrome.
     Acta Paediatr Belg. 1981 Jan-Mar;34(1):47-9.
     
475. Moreau N, Teyssier M.
     Ring chromosome 15: report of a case in an infertile man.
     Clin Genet. 1982 Apr;21(4):272-9.
     
476. Kiss P, Osztovics M.
     Ring chromosome 15.
     Acta Paediatr Acad Sci Hung. 1982;23(4):409-15.
     
477. Neri G, Ricci R, Pelino A, Bova R, Tedeschi B, Serra A.
     A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.
     Am J Med Genet. 1983 Feb;14(2):307-14.
     
478. Otto J, Back E, Fürste HO, Abel M, Böhm N, Pringsheim W.
     Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15.
     Eur J Pediatr. 1984 Aug;142(3):229-31.
     
479. Wilson GN, Sauder SE, Bush M, Beitins IZ.
     Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.
     J Med Genet. 1985 Jun;22(3):233-6.
     
480. Fryns JP, Kleczkowska A, Buttiens M, Jonckheere P, Brouckmans-Buttiens K, van den Berghe H.
     Ring chromosome 15 syndrome. Further delineation of the adult phenotype.
     Ann Genet. 1986;29(1):45-8.
     
481. Kosztolányi G, Pap M.
     Severe growth failure associated with atrophic intestinal mucosa and ring chromosome 15.
     Acta Paediatr Scand. 1986 Mar;75(2):326-31.
     
482. Fujimaki W, Baba K, Tatara K, Umezu R, Kusakawa S, Mashima Y.
     Ring chromosome 15 in a mother and her children.
     Hum Genet. 1987 Jul;76(3):302.
     
483. Jacobsen P.
     A ring chromosome in the 13--15 group associated with microcephalic dwarfism, mental retardation and emotional immaturity.
     Hereditas (Lurid) 1966; 5:188-191.
     
484. Borghgraef M, Fryns JP, Van den Berghe H.
     Psychological findings in three children with ring 15 chromosome.
     J Ment Defic Res. 1988 Aug;32 ( Pt 4):337-47.
     
485. Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA 3rd.
     Two patients with ring chromosome 15 syndrome.
     Am J Med Genet. 1988 Jan;29(1):149-54.
     
486. de Jong G, Rossouw RA, Retief AE.
     Ring chromosome 15 in a patient with features of Fryns' syndrome.
     J Med Genet. 1989 Jul;26(7):469-70.
     
487. Emberger JM, Rossi D, Jean R, Bonnet H, Dumas R.
     Etude d'une observation de chromosome du groupe 13-15 en anneau (46,XY,15r) [Observation of the 13-15 chromosome group in a ring (46,XY,15r)].
     Humangenetik. 1971;11(4):295-9. French.
     
488. Kitatani M, Takahashi H, Ozaki M, Okino E, Maruoka T.
     A case of ring chromosome 15 accompanied by almost normal intelligence.
     Hum Genet. 1990 Jun;85(1):138-9.
489. Smith A, den Dulk G, Viersbach R, Michas J.
     Ring chromosome 15 and 15qs+ mosaic: clinical and cytogenetic behaviour spanning 29 years.
     Am J Med Genet. 1991 Sep 15;40(4):460-3.
     
490. Pfeiffer RA, Dhadial R, Lenz W.
     46,XX/46,XX,r(15) mosaiciam: report of a case.
     J Med Genet. 1977 Feb;14(1):63-5.
     
491. Robinson WP, Bottani A, Xie YG, Balakrishman J, Binkert F, Mächler M, Prader A, Schinzel A.
     Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
     Am J Hum Genet. 1991 Dec;49(6):1219-34.
     
492. Horigome Y, Kondo I, Kuwajima K, Suzuki T.
     Familial occurrence of ring chromosome 15.
     Clin Genet. 1992 Apr;41(4):178-80.
     
493. Tamura T, Tohma T, Ohta T, Soejima H, Harada N, Abe K, Niikawa N.
     Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome.
     Clin Dysmorphol. 1993 Apr;2(2):106-13.
494. Nuutinen M, Kouvalainen K, Knip M.
     Good growth response to growth hormone treatment in the ring chromosome 15 syndrome.
     J Med Genet. 1995 Jun;32(6):486-7.
     
495. Peoples R, Milatovich A, Francke U.
     Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome.
     Cytogenet Cell Genet. 1995;70(3-4):228-34.
     
496. Matsuishi T, Yamada Y, Endo K, Sakai H, Fukushima Y.
     Ring chromosome 15 syndrome in an adult female.
     J Intellect Disabil Res. 1996 Oct;40 ( Pt 5):478-80.
     
497. Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG.
     Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
     Am J Med Genet. 1996 Mar 1;62(1):10-5.
     
498. de Lacerda L, Carvalho JA, Stannard B, Werner H, Boguszewski MC, Sandrini R, Malozowski SN, Leroith D, Underwood LE.
     In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene.
     Clin Endocrinol (Oxf). 1999 Nov;51(5):541-50.
499. Liu YH, Chang SD, Chen FP.
     Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15.
     Prenat Diagn. 2001 Dec;21(12):1031-3.
     
500. Morava E, Bartsch O, Czako M, Frensel A, Kárteszi J, Kosztolányi GY.
     A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion.
     Genet Couns. 2003;14(3):337-42.
     
501. Nikitina NV, Bushueva OA, Nikolaeva EB, Pavlov GV, Lurie IW.
     Maternal transmission of a ring chromosome 15.
     Genet Couns. 2003;14(2):181-6.
     
502. Tümer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brøndum-Nielsen K.
     Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.
     Am J Med Genet A. 2004 Nov 1;130A(4):340-4.
     
503. Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD.
     Ring chromosome 15: characterization by array CGH.
     Hum Genet. 2006 Jan;118(5):611-7.
     
504. Hatem E, Meriam BR, Walid D, Adenen M, Moez G, Ali S.
     Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia.
     Prenat Diagn. 2007 May;27(5):471-4.
     
505. Manolakos E, Vetro A, Kitmirides S, Papoulidis I, Kosyakova N, Mrasek K, Weise A, Agapitos E, Orru S, Peitsidis P, Liehr T, Petersen MB.
     Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH. P
     renat Diagn. 2009 Sep;29(9):884-8.
     
506. Boente MDC, Bazan C, Montanari D.
     Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome.
     Pediatr Dermatol. 2011 Nov-Dec;28(6):670-673.
     
507. Pan M, Choy KW, Liao C, Lau TK.
     [Combined spectral karyotyping and microarray-based comparative genomic hybridization for the diagnosis of a case with ring chromosome 15].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Oct;29(5):562-5. Chinese.
     
508. Guilherme RS, Meloni Vde F, Takeno SS, Pellegrino R, Brunoni D, Kulikowski LD, Melaragno MI.
     Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.
     J Med Case Rep. 2012 Sep 7;6:283.
509. Tan SJ, Chen CH, Chen CP, Chen CW, Chen CY, Hwang KS.
     Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation.
     Taiwan J Obstet Gynecol. 2012 Mar;51(1):109-11.
     
510. Eid MM, El-Bassyouni HT, Eid OM, Hamad SA, Elgerzawy A, Zaki MS, El-Ruby M.
     Ring chromosome 15: expanding the phenotype.
     Genet Couns. 2013;24(4):417-25.
     
511. Britto IS, Regina Silva Herbest S, Tedesco GD, Drummond CL, Bussamra LC, Araujo Júnior E, Ruano R, Ruano SH, Aldrighi JM.
     Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.
     Case Rep Obstet Gynecol. 2014;2014:495702.
512. Puchalska-Niedbał L, Zajączek S, Petriczko E, Kulik U.
     Ophthalmic treatment and vision care of a patient with rare ring chromosome 15: a case report.
     Case Rep Pediatr. 2014;2014:285132.
     
513. Fokstuen S, Kotzot D.
     Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.
     Am J Med Genet A. 2014 Jun;164A(6):1595-605.
     
514. Ye L, Zhao Y, Zhang J, Ma S, Luo H, He J.
     A case report of ring chromosome 15.
     Hered Dis. 1985; 2(1):41–42 
     
515. Tewari S, Lubna N, Shah R, Al-Rikabi ABH, Shah K, Sheth J, Sheth F.
     Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15.
     Mol Cytogenet. 2017 Oct 25;10:38.
     
516. Cannarella R, Mattina T, Condorelli RA, Mongioì LM, Pandini G, La Vignera S, Calogero AE.
     Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function.
     Endocr Connect. 2017 Oct;6(7):528-539.
     
517. Pan Q, Zhang L, Zhang F, Jin X, Hu Y, Zhu L, Cheng L, Zhang Q, Ning Y.
     [Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):406-410. Chinese.
518. Paz-Y-Miño C, Guevara-Aguirre J, Paz-Y-Miño A, Velarde F, Armendáriz-Castillo I, Yumiceba V, Hernández JM, García JL, Leone PE.
     Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.
     J Med Case Rep. 2018 Nov 16;12(1):340.
     
519. Ribeiro Dias Barroso C, Silveira Gomes L, Abrantes Silvestre V, Yamada Utagawa C.
     Cutis tricolor parvimaculata in ring chromosome 15 syndrome: A case report.
     Pediatr Dermatol. 2018 May;35(3):e204-e205.
520. Kalantari H, Karimi H, Almadani SN, Fakhri M, Mokhtari P, Gourabi H, Mohseni Meybodi A.
     Fecundity in an infertile man with r(15) - a challenge to the current paradigm.
     Reprod Biomed Online. 2018 Feb;36(2):210-218.
     
521. Nishikawa K, Itoi F, Nagahara M, Jose M, Matsunaga A, Ueda J, Iwamoto T.
     The normality of sperm in an infertile man with ring chromosome 15: a case report.
     J Assist Reprod Genet. 2018 Feb;35(2):251-256.
     
522. Shao HY, Wang HL, Wu H, Liu XY, Miao ZY.
     Clinical, cytogenetic and molecular analyses of a rare case with ring chromosome 15 and review of the literature.
     Taiwan J Obstet Gynecol. 2020 Nov;59(6):980-984.
     
523. Alhashem A, Alazmeh S, Barakat A, Alfares A, Elghezal H.
     De novo ring chromosome 15: Molecular cytogenetic and clinical characterization of first case from Saudi Arabia.
     J Pediatr Genet. 2020 Dec 2;11(4):320-323.
     
524. Zhang J, Yang Y, Zhang J, Wang S, Yao F, Zhang Y, Jiang S.
     [Molecular cytogenetic study of a case with ring chromosome 15].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Mar 10;38(3):238-241. Chinese.
     
525. Chen M, Ke X, Liang H, Gong F, Yang H, Wang L, Duan L, Pan H, Cao D, Zhu H.
     The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.
     Mol Genet Genomic Med. 2021 Dec;9(12):e1842.
526. Traisrisilp K, Yanase Y, Phirom K, Tongsong T.
     Prenatal sonographic features of ring chromosome 15: A case report and literature review.
     Diagnostics (Basel). 2022 Apr 1;12(4):885.
     
527. Wannes S, El Ahmer I, Rjiba K, Jemmali N, Abdallah HH, Haj RB, Achour A, Bouzidi H, Saad A, Mougou S, Mahjoub B.
     Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment.
     Growth Horm IGF Res. 2023 Aug;71:101550.
     
528. Gediya SG, Poswal L, Sanadhya A, Goyal S.
     Ring chromosome 15 presenting as short stature, intellectual disability and café-au-lait spots.
     Int J Res Med Sci. 2016;4(11) 10.18203/2320%2D6012.ijrms20163825.
     
529. Hitayezu J, Uwineza A, Murorunkwere S, Ndinkabandi J, Mutesa L.
     A case of Rwandan patient with ring chromosome 15 syndrome.
     Rwanda Med J. 2013;70:27–28.
     
530. Xu F, Zou CC, Liang L, Huang XM, Shao YN.
     Ring chromosome 15 syndrome: Case report and literature review.
     Hong Kong J. Paediatr. 2011;16:175-9.
     
531. Hernando C, Grao P, Santos M, García M, De la Maza L, Egozcue J, Fuster YC.
     Caracterización del cromosoma 15 en anillo presente en 2 pacientes con gran retraso de crecimiento mediante hibridación genómica comparada.
     An Pediatría. 2005;62:607-27.
     
532. Jacobsen P.
     A ring chromosome in the 13–15 group associated with microcephalic dwarfism, mental retardation and emotional immaturity.
     Hereditas 1966, 55(1):188-91
533. Qing S, Lili L, Na W, Yiting X, Zhan Z.
     Karyotyping analysis of a mosaic ring chromosome 15.
     Chin J Med Genet 2020; 37(2):1.
534. Fryns JP, Borghgraef M, Kleczkowska A, Van Den Berghe H.
     Ring chromosome 15: follow-up data on physical and psychological development.
     Genet Couns. 1990;1(2):167-72.
     
535. László J, Gaál M, Bösze P.
     Primary gonadal hypoplasia and dysmorphic features in ring chromosome 15 syndrome.
     Clin Genet. 1982 May;21(5):351.
     
536. Xu F, DiAdamo AJ, Grommisch B, Li P.
     Interstitial duplication and distal deletion in a ring chromosome 13 with pulmonary atresia and ventricular septal defect: A case report and review of literature.
     N A J Med Sci 2013;6:208-12.
     
537. Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M.
     Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
     Am J Med Genet A. 2009 May;149A(5):894-905.
538. Giovannini S, Marangio L, Fusco C, Scarano A, Frattini D, Della Giustina E, Zollino M, Neri G, Gobbi G.
     Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients.
     Epilepsia. 2013 Dec;54(12):2204-13.
     
539. Vaisfeld A, Spartano S, Gobbi G, Vezzani A, Neri G.
     Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma.
     Epilepsia. 2021 Jan;62(1):25-40.
     
540. Rossi E, Messa J, Zuffardi O.
     Ring syndrome: still true?
     J Med Genet. 2008 Nov;45(11):766-8.
     
541. Guilherme R, Klein E, Hamid A, Bhatt S, Volleth M, Polityko A, Kulpanovich A, Dufke A, Albrecht B, Morlot S, Brecevic L, Petersen M, Manolakos E, Kosyakova N, Liehr T.
     Human ring chromosomes - New insights for their clinical significance.
     Balkan J Med Genet. 2013 Jun;16(1):13-20.
     
542. Conte RA, Kleyman SM, Kharode C, Verma RS.
     Delineation of a ring chromosome 16 by the FISH-technique: a case report with review.
     Clin Genet. 1997 Mar;51(3):196-9.
543. Lazer T, Friedler S.
     Gene deletions due to ring chromosome 16 are associated with low reproductive potential, a novel observation.
     Ann Gynecol Obstet 2019; 3(1):39-42.
     
544. Pergament E, Pietra GC, Kadotani T, Sato H, Berlow S.
     A ring chromosome No. 16 in an infant with primary hypoparathyroidism.
     J Pediatr. 1970 May;76(5):745-51.
     
545. Neidengard L, Sparkes RS.
     Ring chromosome 16.
     Hum Genet. 1981;59(2):175-7.
     
546. Callen DF, Hyland VJ, Baker EG, Fratini A, Gedeon AK, Mulley JC, Fernandez KE, Breuning MH, Sutherland GR.
     Mapping the short arm of human chromosome 16.
     Genomics. 1989 Apr;4(3):348-54.
     
547. Quintana A, Sordo MT, Estevez C, Ludena M.
     16 ring chromosome.
     Clin Genet 1983; 23(1):243.
     
548. Chodirker BN, Ray M, McAlpine PJ, Riordan D, Vust A, Pugh D, Chudley AE.
     Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16.
     Am J Med Genet. 1988 Sep;31(1):145-51.
     
549. Vianello MG, Cottafava F, Bartoli D, Franzone G, Casazzava R, Gastaldi R.
     Ring chromosome 16: a new case.
     Ann Genet. 1990;33(1):36-9.
     
550. He W, Tuck-Muller CM, Martínez JE, Li S, Rowley ER, Wertelecki W.
     Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts.
     Am J Med Genet. 2002 Jan 1;107(1):12-7.
     
551. Zhu J, Yu X, Qi X, Cao Q, Zhu W, Yang D, Zhang H, Song Z, Wang S, Wang C.
     [A rare case of dicentric ring chromosome and derivative ring chromosome Chimera].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 May 10;39(5):534-536. Chinese.
     
552. Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M.
     Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
     Orphanet J Rare Dis. 2017 Apr 11;12(1):69.
     
553. Nikitina TV, Kashevarova AA, Gridina MM, Lopatkina ME, Khabarova AA, Yakovleva YS, Menzorov AG, Minina YA, Pristyazhnyuk IE, Vasilyev SA, Fedotov DA, Serov OL, Lebedev IN.
     Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming.
     Sci Rep. 2021 Feb 22;11(1):4325.
554. Ocak Z, Ozlu T, Vural M.
     Anal atresia, abnormal genitalia, and absent thumb: congenital malformations associated with mosaic ring chromosome 13.
     Genet Couns. 2013;24(2):157-60.
     
555. Dallaire L.
     A ring B chromosome in a female with multiple skeletal abnormalities.
     BD:OAS 1969; 5(5):114-116.
     
556. Faed M, Stewart A, Keay AJ.
     Chromosome abnormalities in two cases with bilateral radial element defects.
     J Med Genet. 1969 Sep;6(3):342-6.
     
557. Belitz B, Pfeffer L, Witkowski R.
     Eine junge Frau mit Symtomen des Wolf-Hirschhorn-Syndroms und einem Ringchromosom 4.
     Z Klin Med 1991; 46:459462.
558. Shilova NV, Minzhenkova ME, Markova ZhG, Tarlycheva AA, Yurchenko DA.
     Ring chromosome 3 instability at mitosis.
     Medical genetics 2019; 18(9):40-45 [in Rus]
559. Zyuzikova ZS, Volevodz NN.
     Clinical case of a rare genetic disease, accompanied by severe growth delay - ring chromosome 4.
     Orphan diseases in Russia. WWW.RAE-ORG.RU, p79. [in Rus]
560. Shilova NV, Minzhenkova ME, Markova ZhG, Tarlycheva AA, Yurchenko DA,Tabakov VYu, Borovikov AO.
     Dynamic tissue-specific mosaicism of a ring chromosome 13.
     Medical Genetics 2022; 21(11):56-58. [in Rus]
561. Novikova LB, Akopyan AP, Latypova RF, Faizullina NM.
     Drug-resistant epilepsy cases in chromosomal pathology.
     Epilepsia and paroxymal conditons 2024; 16(3):223-230. [in Rus]
     
562. Jindal A, Uppal K, Polipalli SK, Kapoor S.
     Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report.
     JBCGenetics. 2024; 7(1): 048-053.
563. Sepulveda W, Dezerega V, Be C.
     First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign.
     J Ultrasound Med. 2004 Jun;23(6):761-5; quiz 766-7.
     
564. Bittel DC, Kibiryeva N, Butler MG.
     Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities.
     Genet Test. 2007 Winter;11(4):467-75.
     
565. Cunniff C, Curtis M, Hassed SJ, Hoyme HE.
     Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.
     Am J Med Genet. 1998 Jan 6;75(1):52-4.
566. Giraud F, Emberger JM, Pinsard N, Mattei JF, Mattei MG.
     Le syndrome du chromosome 13 en anneau [The chromosome 13 in ring syndrome].
     Pediatrie. 1975 Jun;30(4):339-49. French.
     
567. El Mokhtari M, Warssama O, Bakali K,  Al Haouari Z, Imane Z.
     Transposition péno-scrotale sur un syndrome du chromosome 13 en anneau.
     Annales d'Endocrinologie 2016; 77(4): 481-482.
568. Oudrhiri M, Aglili FZ, Knouni H, Barkat A.
     Chromosome 13 en anneau et ambiguïté sexuelle: à propos d´une observation.
     PAMJ - Clinical Medicine 2019; 1:60.
569. Ayala DVS, del Castillo G, Velasco Y.
     Cromosoma 13 en anillo reporte de caso.
     Pediatria. 2016;49(1):31-35.
570. Otero DL, Travieso Téllez A, del Carmen Mitjans Torres M, Miñoso Pérez S, Toledo Toledo Z.
     Anillo del cromosoma 13 en una lactante con microcefalia
     Rev Ciencias Médicas 2018; 22(1):S1561-31942018000100024
571. Rea González ME, Lantigua Cruz A, Méndez Rosado LA.
     Correlación cariotipo - fenotipo en un paciente con síndrome cromosoma 13 en anillo.
     Rev Cubana Genet Comunit 2014; 8(3):32-39.
572. Abroyan LM, Khokhlova AP.
     Ring chromosome 13 syndrome.
     Rus Ped J 2024; 27(Suppl 1.):10
     
573. Retbi JM, Raoul O, Allemon MC, Dayras JC.
     Chromosome 11 en anneau (46, XX, r 11). Une nouvelle observation [Ring-shaped chromosome 11 (46, XX, r11). A new case].
     Nouv Presse Med. 1981 Jan 24;10(3):181.
     
574. Cousin J, Boutu F, Savary JB, Jacqueloot N, Deminatti M, Fournier A.
     Maladie du cri du chat par chromosome 5 en anneau [Crying cat syndrome with ring shaped chromosome 5].
     Arch Fr Pediatr. 1972 Oct;29(8):896-7. French.
     
575. Corrêa T, Mergener R, Leite JCL, Galera MF, Moreira LMA, Vargas JE, Riegel M.
     Cytogenomic integrative network analysis of the critical region associated with Wolf-Hirschhorn syndrome.
     Biomed Res Int. 2018 Mar 12;2018:5436187.
     
576. Magenis RE, Overton K, Wyandt H, Bergstrom T, Hecht F, Lovrien E.
     Exclusion gene mapping utilizing patients with chromosome imbalance: the HL-A system as a prototype.
     Humangenetik. 1975;27(2):91-109.
     
577. Hecht F.
     Ring-4 chromosome: Ring autosomes, lorelei of clinical-karyotype correlation and deletion mapping.
     Birth Defects: Original Article Series 1969; V:106-113.
     
578. Kim SS, Jung SC, Kim HJ, Moon HR, Lee JS.
     Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases.
     J Korean Med Sci. 1999 Aug;14(4):373-6.
579.  Yakut S, Çetin Z, Şİmşek M, Mendilcioğlu II, Toru HS, Berker Karaüzüm S, Lüleci G.
     Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases.
     Turk Patoloji Derg. 2015;31(1):36-44.
     
580. Wyandt HE, Kasprzak R, Lamb A, Willson K, Wilson WG, Kelly TE.
     Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange.
     Cytogenet Cell Genet. 1982;33(3):222-31.
     
581. Malygina NA, Mutovin GR, Filina NP, Akif'ev AP.
     Khromosomnyĭ mozaitsizm pri sindrome r (15) [Chromosomal mosaicism in the r (15) syndrome].
     Genetika. 1980;16(11):2029-33. Russian.
     
582. Hou JW, Wang TR.
     Primed in situ (PRINS) labeling for rapid detection of numeric and structural chromosome anomalies.
     J Formos Med Assoc. 1997 Jan;96(1):46-50.
     
583. Chuang SM, Chen SH, Yang CP.
     [An autopsy case of cri du chat syndrome: The fifth case report of ring chromosome].
     Taiwan Yi Xue Hui Za Zhi. 1976 May;75(5):282-9. Chinese.
     
584. Cantu JM, Salamanca F, Sanchez J, Peña T, Pacheco C, Armendares S.
     Human acrocentric ring chromosomes and satellite association.
     Ann Genet. 1975 Sep;18(3):193-6.
     
585. Fledelius HC.
     Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.
     Acta Ophthalmol Scand Suppl. 1996;(219):23-6.
     
586. Dayakar S, Rani DS, Babu SJ, Srilatha K, Jayanthi U, Goud KI, Jain D, Raina V.
     Increasing role of cytogenetics in pediatric practice.
     Genet Test Mol Biomarkers. 2010 Apr;14(2):197-204.
     
587. Knijnenburg J, Szuhai K, Giltay J, Molenaar L, Sloos W, Poot M, Tanke HJ, Rosenberg C.
     Insights from genomic microarrays into structural chromosome rearrangements.
     Am J Med Genet A. 2005 Jan 1;132A(1):36-40.
     
588. Cooper LF, Coss CA, Jabs EW.
     Reevaluation of the origin of a marker chromosome in a patient with 47,XX,r(13)(p11q34), + mar by molecular cytogenetics.
     Clin Genet. 1992 Dec;42(6):323-5.
     
589. Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, Van Thienen M-N, Van Roy B, Sutherland GR, Haan EA.
     High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.
     J Med Genet. 1993 Oct;30(10):828-32.
     
590. Hsu LY, Yu MT, Richkind KE, Van Dyke DL, Crandall BF, Saxe DF, Khodr GS, Mennuti M, Stetten G, Miller WA, Priest JH.
     Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study.
     Prenat Diagn. 1996 Jan;16(1):1-28.
     
591. Tommerup N, Lothe R.
     Constitutional ring chromosomes and tumour suppressor genes.
     J Med Genet. 1992 Dec;29(12):879-82.
592. Guilherme RS, Klein E, Venner C, Hamid AB, Bhatt S, Melaragno MI, Volleth M, Polityko A, Kulpanovich A, Kosyakova N, Liehr T.
     Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?
     Chromosome Res. 2012 Oct;20(7):825-35.
     
593. Yoshimitsu K, Nishi Y, Kobayashi Y, Yoshimura O, Ohama K, Oguma N, Usui T.
     Decreased superoxide dismutase-2 activity in a patient with ring chromosome 6.
     Am J Med Genet. 1987 Sep;28(1):211-4.
     
594. Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LM, Lüleci G, Schinzel AA.
     A somatic origin of homologous Robertsonian translocations and isochromosomes.
     Am J Hum Genet. 1994 Feb;54(2):290-302.
     
595. Fortin F, Beaulieu Bergeron M, Fetni R, Lemieux N.
     Frequency of chromosome healing and interstitial telomeres in 40 cases of constitutional abnormalities.
     Cytogenet Genome Res. 2009;125(3):176-85.
     
596. Petit P, Koulischer L.
     Etude d'une mosaïque 46,XX-46,XX,17r [Study of a 46,XX-46,XX,17r mosaicism].
     Ann Genet. 1971 Mar;14(1):55-8. French.
     
597. Burden M, Lupaşcu E, Mărgineanu L.
     Un caz familial de cromozom din grupa E în inel (17) r cu transmitere de la tată la fiu [A familial case of 17 r ring-shaped chromosome of group E with transmission from father to son].
     Rev Med Chir Soc Med Nat Iasi. 1973 Apr-Jun;77(2):353-7. Romanian.
     
598. Ono K, Suzuki Y, Fujii I, Takeshita K, Arima M.
     [A case of ring chromosome E 17: 46, XX, r(17) (p13 yields q25) (author's transl)].
     Jinrui Idengaku Zasshi. 1974 Dec;19(3):235-42. Japanese.
     
599. Weinberg AG, Bair JL, Harrod MJ.
     Ring 17 chromosome detected by amniocentesis.
     Humangenetik. 1975 Jul 23;28(3):269-72.
     
600. Qazi OH, Madahar C, Kanchanapoomi R, Giridharan R, Beller E.
     Ring chromosome 17 in a mentally retarded boy.
     Ann Genet. 1979;22(4):234-8.
     
601. Carpenter NJ, Leichtman LG, Stamper S, Say B.
     An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?
     J Med Genet. 1981 Jun;18(3):234-6.
     
602. Borgaonkar DS.
     Repository of chromosomal variants and anomalies in man. Sixth listing.
     Denton, Texas: Genetics Center and Department of Biological Sciences, 1979.
     
603. Chudley AE, Pabello PD, McAlpine PJ, Nickel BE, Shokeir MH.
     Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigations.
     Am J Med Genet. 1982 Jun;12(2):219-25.
604. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH.
     Miller-Dieker syndrome: lissencephaly and monosomy 17p.
     J Pediatr. 1983 Apr;102(4):552-8.
     
605. Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH.
     New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
     Hum Genet. 1984;67(2):193-200.
     
606. vanTuinen P, Dobyns WB, Rich DC, Summers KM, Robinson TJ, Nakamura Y, Ledbetter DH.
     Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
     Am J Hum Genet. 1988 Nov;43(5):587-96.
     
607. Lambruschini Ferri N, Ortola Castells ME, Rosell Andreo J, Ballesta Martínez F.
     Cromosoma 17 en anillo y neumopatía recidivante [Ring chromosome 17 and recurring pneumopathy].
     An Esp Pediatr. 1989 Nov;31(5):478-80. Spanish.
     
608. Sharief N, Craze J, Summers D, Butler L, Wood CB.
     Miller-Dieker syndrome with ring chromosome 17.
     Arch Dis Child. 1991 Jun;66(6):710-2.
     
609. Charles SJ, Moore AT, Davison BC, Dyson HM, Willatt L.
     Flecked retina associated with ring 17 chromosome.
     Br J Ophthalmol. 1991 Feb;75(2):125-7.
     
610. Teyssier M, Charrin C, Corgiolu Theuil G, David L.
     Ring chromosome 17. Case report and review of the literature.
     Ann Genet. 1992;35(2):75-8.
     
611. Gass JD, Taney BS.
     Flecked retina associated with café au lait spots, microcephaly, epilepsy, short stature, and ring 17 chromosome.
     Arch Ophthalmol. 1994 Jun;112(6):738-9.
612. Endo A, Uesato T, Minato M, Takada M, Takahashi S, Harada K.
     Ring chromosome 17 syndrome with monosomy 17 mosaicism: case report and literature review.
     Acta Paediatr. 1999 Sep;88(9):1040-3.
     
613. Shashi V, White JR, Pettenati MJ, Root SK, Bell WL.
     Ring chromosome 17: phenotype variation by deletion size.
     Clin Genet. 2003 Oct;64(4):361-5.
     
614. Ricard-Mousnier B, N'Guyen S, Dubas F, Pouplard F, Guichet A.
     Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome.
     Epileptic Disord. 2007 Sep;9(3):327-31.
     
615. Havlovicova M, Novotna D, Kocarek E, Novotna K, Bendova S, Petrak B, Hrdlicka M, Sedlacek Z.
     A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
     Am J Med Genet A. 2007 Jan 1;143A(1):76-81.
     
616. Vazna A, Havlovicova M, Sedlacek Z.
     Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism.
     Gene. 2008 Jan 15;407(1-2):186-92.
     
617. Kumari R, Black G, Dore J, Lloyd IC.
     Flecked retina associated with ring 17 chromosome.
     Eye (Lond). 2009 Nov;23(11):2134-5.
     
618. Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A.
     Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.
     Clin Genet. 2009 Sep;76(3):256-62.
     
619. Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D'Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S, Petrocchi S, Hachem ME, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A.
     Telomere shortening and telomere position effect in mild ring 17 syndrome.
     Epigenetics Chromatin. 2014 Jan 7;7(1):1.
     
620. de Palma L, De Carlo D, Lenzini E, Boniver C, Tarantino V, Bacci B, Vecchi M.
     Ring 17 syndrome: first clinical report without intellectual disability.
     Epileptic Disord. 2015 Mar;17(1):84-7; quiz 88.
     
621. Coppola A, Morrogh D, Farrell F, Balestrini S, Hernandez-Hernandez L, Krithika S, Sander JW, Waters JJ, Sisodiya SM.
     Ring chromosome 17 not involving the Miller-Dieker region: A case with drug-resistant epilepsy.
     Mol Syndromol. 2017 Dec;9(1):38-44.
622. Tempone Cardoso Penna G, de Rezende Lelot G, de Rezende Lelot AL, Greghi Hernandez J, Costa Figueiredo C, de Araujo Evangelista NM, Tonetto Fernandes VF, de Paula Colares Neto G.
     Effect of recombinant human growth hormone treatment in a patient with short stature associated with the ring chromosome 17 syndrome.
     Case Rep Pediatr. 2023 Sep 25;2023:6686511.
623. Kim SY, Wohler E, Gutierrez MJ, Sadreameli C, Kossoff E, Sobreira NL.
     Ring chromosome 17 syndrome - A case report and discussion of diagnostic methods.
     Am J Med Genet A. 2025 Mar;197(3):e63925.
624. Yu H, Hu X, Xiang P, Liu L, Zhang C, Huang H, Ning L.
     [Clinical phenotype and genetic analysis of twelve children with ring chromosomes].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Feb 10;40(2):191-194. Chinese.
625. Kushwaha S, Stinnett V, Zou YS, Murry JB.
     Live-born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series-spanning 52 years of experience in a single center.
     Am J Med Genet A. 2024 Feb;194(2):253-267.
626. Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME.
     Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
     Am J Hum Genet. 2024 Dec 5;111(12):2693-2706.
627. Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP.
     A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
     G3 (Bethesda). 2013 Jul 8;3(7):1143-9.
     
628. Lucas M, Kemp NH, Ellis JR, Marshall R.
     A small autosomal ring chromosome in a female infant with congenital malformations.
     Ann Hum Genet. 1963 Nov;27:189-95.
     
629. Gropp A, Jussen A, Ofteringer K.
     Multiple congenityl anomalies associated  with a partially ring-shaped chromosomes probably derived from chromosome no. 18 in man.
     Nature. 1964 May 23;202:829-30.
     
630. Palmer CG, Fareed N, Merritt AD.
     Ring chromosome 18 in a patient with multiple anomalies.
     J Med Genet. 1967 Jun;4(2):117-23.
631. Petit P, Poncelet R.
     Un nouveau cas de chromosome 18 en anneau (18 r) [A new case of a ring shaped chromosome 18 (18 r)].
     Ann Genet. 1967 Sep;10(3):134-7. French.
     
632. Hooft C, Haentjens P, Orye E, Kluyskens P, D'Hont G.
     Chromosome 18 en anneau [Ring chromosome 18].
     Acta Paediatr Belg. 1968;22(2):69-88. French.
633. Finley SC, Finley WH, Noto TA, Uchida IA, Roddam RF.
     IgA absence associated with a ring-18 chromosome.
     Lancet. 1968 May 18;1(7551):1095-6.
634. De Grouchy J, Herrault A, Cohen-Solal J.
     Une observation de chromosome 18 en anneau (18r) [An observation of ring chromosome 18 (18r)].
     Ann Genet. 1968 Mar;11(1):33-8. French.
635. Warren RJ.
     IgA and ring-18 chromosome.
     Lancet. 1968 Aug 10;2(7563):350.
636. Richards BW, Hobbs JR.
     IgA and ring-18 chromosome.
     Lancet. 1968 Jun 29;1(7557):1426-7.
637. Fujita H, Yamamoto K, Furuyama J.
     A mentally retarded boy with a ring E18 chromosome.
     Jinrui Idengaku Zasshi. 1968 Oct;13(2):104-11.
     
638. Jensen K, Christensen KR, Jacobsen P, Nielsen J, Friedrich U, Tsuboi T.
     Ring chromosome 18 and gamma-M-globulin abnormality.
     Lancet. 1969 Aug 30;2(7618):497-8.
639. Deminatti M, Dupuis C, Maillard E, Delmas-Marsalet Y, Bulteel MF.
     Une nouvelle observation de chromosome 18 en anneau [A new observation of a ring chromosome 18].
     Ann Genet. 1969 Jun;12(2):126-9. French.
640. Cenani A, Pfeiffer RA, Simon HA.
     Ring chromosome 18 (46, XX, 18r).
     Humangenetik. 1969;7(4):351-2.
641. Murken JD, Salzer G, Kunze D.
     Ringchromosom Nr. 18 und fehlendes IgA bei einem 6jährigen Mädchen (46,XX,18r) [Ring-chromosome 18 and IgA deficiency in a 6-year-old girl (46,XX,18r)].
     Z Kinderheilkd. 1970;109(1):1-10. German.
642. Christensen KR, Friedrich U, Jacobsen P, Jensen K, Nielsen J, Tsuboi T.
     Ring chromosome 18 in mother and daughter.
     J Ment Defic Res. 1970 Mar;14(1):49-67.
643. Deminatti M, Debeugny P, Croquette-Bulteel MF, Delmas-Marsalet Y.
     Deux observations de chromosome 18 en anneau [2 cases of ring 18 chromosome].
     Ann Genet. 1970 Sep;13(3):149-55. French.
644. Richards BW, Rundle AT, Zaremba J, Stewart A.
     Ring chromosome 18 in a mentally retarded boy.
     J Ment Defic Res. 1970 Jun;14(2):174-86.
645. Ricci N, Dallapiccola B, Ventimiglia B, Preto G.
     Cromosoma 18 ad anello [Ring chromosome 18].
     Acta Genet Med Gemellol (Roma). 1970 Jul;19(3):439-47. Italian.
646. De Grouchy J.
     Chromosome 18: A topologic approach.
     J Pediatr. 1965 Feb;66:414-31.
     
647. Genest P, Leclerc R, Auger C.
     Ring chromosome and partial translocation in the same cell.
     Lancet 1963 1, 1426.
     
648. Brasfield D.
     The ring 18 syndrome--a rare autosomal aberration.
     Ala J Med Sci. 1971 Jul;8(3):265-6.
649. Cortesi M, Patriarca PL.
     Cromosoma 18 ad anello. Descrizione di un caso e rassegna della letteatura [Ring formation of Chromosome 18. Case report and review of the literature].
     Minerva Pediatr. 1971 May 19;23(30):902-8. Italian.
     
650. Golomb HM, Bahr GF, Borgaonkar DS.
     Analysis of human chromosomal variants by quantitative electron microscopy. II. Ring chromosome 18.
     Chromosoma. 1971;34(1):94-8.
651. Michaels DL, Go S, Humbert JR, Dubois RS, Stewart JM, Ellis EF.
     Intestinal nodular lymphoid hyperplasia, hypogammaglobulinemia, and hematologic abnormalities in a child with a ring 18 chromosome.
     J Pediatr. 1971 Jul;79(1):80-8.
652. Olambiwonnu NO, Ebbin AJ, Frasier SD.
     Primary hypoparathyroidism associated with ring chromosome 18.
     J Pediatr. 1972 May;80(5):833-5.
653. Grosse KP, Schwanitz G, Rott HD, Klein K, von Zyl J.
     E 18 -Ringchromosom, Kasuistik und Ubersicht [E 18 ring chromosome--case report and review].
     Klin Padiatr. 1972 Nov;184(6):495-500. German.
     
654. Cohen MM, Storm DF, Capraro VJ.
     A ring chromosome (No. 18) in a cyclops.
     Clin Genet. 1972;3(4):249-52.
     
655. Winter JS, Ahluwalia K, Ray M.
     Conenital hypothyroidism in association with a ring chromosome 18.
     J Med Genet. 1972 Mar;9(1):122-6.
656. Giovannucci Uzielli ML, Carbone C, Calabri G.
     Il cromosoma 18 ad anello. Osservazione clinica e considerazioni cariologiche [Ring chromosome 18. Clinical study and caryologic considerations].
     Minerva Pediatr. 1972 Oct 20;24(36):1707-14. Italian.
657. Kunze J, Stephan E, Tolksdorf M.
     Ring-Chromosom 18. Ein 18p-/18q- -Deletionssyndrom [Ring chromosome 18. 18p-/18q- -deletion-syndrome].
     Humangenetik. 1972;15(4):289-318. German.
658. Brasfield DM, Finley SC, Finley WH.
     Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r).
     South Med J. 1973 Jun;66(6):658-60.
     
659. Coco R, Barreiro CZ, Penchaszadeh VB.
     A case of ring 18 chromosome in a sibship with multiple spontaneous abortions.
     Ann Genet. 1975 Jun;18(2):135-7.
660. Kunze J, Spranger J, Tolksdorf M.
     Ring-Chromosom 18 [Ring chromosome 18].
     Monatsschr Kinderheilkd (1902). 1976 Jan;124(1):41-2. German.
661. Grace E, Sills J.
     The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship.
     Hum Genet. 1978 Jul 12;43(1):111-4.
662. Muramoto J, Honda J, Niitsuma K, Fukushima T.
     Break points on 18 ring chromosome of a girl with congenital anomalies.
     Fukushima J Med Sci. 1978;25(3-4):131-4.
     
663. Danesino C, D'Azzo A, Maraschio P, Fraccaro M.
     The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect.
     Hum Genet. 1978 Sep 19;43(3):299-305.
664. Carbone LD, Caffarena G, Arslanian A, Cresta E, de Filippi M, Frateschi M.
     Cromosoma 18 ad anello studio clinico e citogenetico [18 ring chromosome. A clinical and cytopathogenetic study (author's transl)].
     Pathologica. 1978 Nov-Dec;70(1009-1010):687-92. Italian.
     
665. Serville F, Guillard JM, Junien C, Gauville J.
     Anomalie constitutionnelle du chromosome 18 : 46,XX,r(18). Diminution de l'activité de la peptidase A érythrocytaire [A child with a ring 18 chromosome : 46,XX,r(18) and a decreased enzymatic activity of erythrocyte peptidase A (author's transl)].
     Ann Pediatr (Paris). 1979 Dec;26(10):711-5. French.
666. Marković S, Adzić, Mijin K, Radojković Z, Lopicić Lj.
     Prstenasti hromozom 18 i osteogenesis imperfecta u porodici u kojoj se javljaju spontani pobacaji [Ring-like chromosome 18 and osteogenesis imperfecta in a family in which spontaneous abortions appear].
     Srp Arh Celok Lek. 1979 Mar;107(3):245-52. Serbian.
     
667. Burgio GR, Duse M, Monafo V, Ascione A, Nespoli L.
     Selective IgA deficiency: clinical and immunological evaluation of 50 pediatric patients.
     Eur J Pediatr. 1980 Mar;133(2):101-6.
668. Srsen S, Volna J, Miklerová M.
     Mozaika prstencového chromozómu 18 [A mosaic of ring chromosome 18].
     Cesk Pediatr. 1980 Aug;35(8):419-22. Slovak.
669. Koulischer L, Gillerot Y, Richard J.
     Caryotype 46,XX, r(18), + mar chez la niéce d'un trisomique 21 leucémique avec chromosome du cri du chat [46,XX,r(18), + mar karyotype in the niece of a leukemic patient with trisomy 21 and cri du chat chromosome (author's transl)].
     Ann Genet. 1980;23(4):228-31. French.
     
670. Cantú JM, Hernández A, Möller M, Aguirre-Negrete MG, Rivera H.
     On the origin of ring chromosomes about an apparently non-deleted r(18) (p11q23).
     Acta Cient Venez. 1985;36(3-4):280-3. Italian.
     
671. Scott CI.
     Ring chromosome 18. Birth defects.
     Original Articles Series 1969; 5: 158-159.
672. Hata A, Suzuki Y, Matsui I, Kuroki Y.
     Ring 18 mosaicism in identical twins.
     Hum Genet. 1982;62(4):364-7.
673. Fukushima Y, Fukuda T, Kuroki Y, Niikawa N, Matsuura N, Yamada Y, Ieshima A.
     Predisposition to autoimmune thyroiditis in ring chromosome 18 syndrome.
     Jinrui Idengaku Zasshi. 1984 Jun;29(2):127-32.
674. Rocchi M, Cigui I, Archidiacono N, Pecile V, Porcelli G, Filippi G.
     A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping.
     Clin Genet. 1984 Aug;26(2):156-60.
675. Heinz-Erian P, Sigmund J, Frisch H, Kazda S, Bindra A, Rhomberg K.
     Mechanismus einer genetisch bedingten Gedeihstörung am Beispiel eines Patienten mit Ringchromosom 18 [Mechanism of a genetically conditioned failure to thrive shown in a patient with ring chromosome 18].
     Padiatr Padol. 1985;20(3):231-41. German.
676. Zergollern L, Begović D, Hitrec V, Sterijev Z.
     Sindrom r(18) [The r(18) syndrome].
     Lijec Vjesn. 1985 Nov-Dec;107(11-12):493-6. Croatian.
     
677. Faugeras C, Barthe D.
     Transmission d'un chromosome 18 en anneau sur deux générations, chez des sujets à phénotype normal [Transmission of an 18 ring chromosome in two generations in subjects of normal phenotype].
     J Genet Hum. 1986 Aug;34(3-4):313-20. French.
678. Donlan MA, Dolan CR.
     Ring chromosome 18 in a mother and son.
     Am J Med Genet. 1986 May;24(1):171-4.
679. Midro AT, Czerwińska-Ciechan K, Wiśniewski L, Sawicka A, Marcinkiewicz D.
     Przypadek dziewczynki z chromosomem pierścieniowym 18 w kariotypie [A case of a girl with a ring chromosome 18 in the karyotype].
     Pol Tyg Lek. 1987 Mar 2;42(9):260-3. Polish.
680. Benito E, Serrano A, Moreno F, Espinosa J, Dávila MJ, Cardesa JJ, Galán E, Rubio J, Zarallo L.
     Cromosoma 18 en anillo 46,XY,r(18) [Ring chromosome 18 46,XY,r(18)].
     An Esp Pediatr. 1987 Feb;26(2):121-3. Spanish
681. Taalman RD, Weemaes CM, Hustinx TW, Scheres JM, Clement JM, Stoelinga GB.
     Chromosome studies in IgA-deficient patients.
     Clin Genet. 1987 Aug;32(2):81-7.
682. Kalker U, Gabriel M, Jacobi G.
     Van der Woude-Syndrom in Kombination mit Ringchromosom 18 [Van der Woude syndrome in combination with ring chromosome 18].
     Monatsschr Kinderheilkd. 1988 Feb;136(2):95-8. German.
683. Amit R, Gutman A, Udassin R, Barash V, Kohn G.
     Ring 18 chromosome with mental retardation, hemidysmorphism, and mitochondrial encephalomyopathy.
     Pediatr Neurol. 1988 Sep-Oct;4(5):301-4.
684. Abusrewil SS, McDermott A, Savage DC.
     Growth hormone, suspected gonadotrophin deficiency, and ring 18 chromosome.
     Arch Dis Child. 1988 Sep;63(9):1090-1.
685. Eiben B, Unger M, Stoltenberg G, Rutt G, Goebel R, Meyer A, Gamerdinger U, Hammans W, Hansen S, Hauss H, Vogel M, Schwanitz G.
     Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism.
     Prenat Diagn. 1992 Nov;12(11):945-50.
686. Vivarelli R, Paolieri M, Anichini C, Scarinci R, Berardi R, Rosaia L, Pucci L.
     Correlazioni tra cariotipo e fenotipo nelle anomalie strutturali e numeriche del cromosoma 18 [Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18].
     Boll Soc Ital Biol Sper. 1992 Apr;68(4):263-9. Italian.
687. Fryns JP, Kleczkowska A.
     Autism and ring chromosome 18 mosaicism.
     Clin Genet. 1992 Jul;42(1):55.
688. Fryns JP, Kleczkowska A, Smeets E, Van Den Berghe H.
     Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.
     Ann Genet. 1992;35(2):121-3.
689. Andersen UM.
     Ringkromosom 18 [Ring chromosome 18].
     Ugeskr Laeger. 1992 Nov 9;154(46):3250-1. Danish.
690. Park VM, Gustashaw KM, Wathen TM.
     The presence of interstitial telomeric sequences in constitutional chromosome abnormalities.
     Am J Hum Genet. 1992 May;50(5):914-23.
691. Jenderny J, Caliebe A, Beyer C, Grote W.
     Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
     J Med Genet. 1993 Nov;30(11):964-5.
692. Wang HC, Melnyk J, McDonald LT, Uchida IA, Carr DH, Goldberg B.
     Ring chromosomes in human beings.
     Nature. 1962 Aug 18;195:733-4.
     
693. Mikelsaar AVN, Talvik TA, Sitska ME.
     A ring-shaped chromosome (presumably :No. 18) and its bearing on multiple congenital anomalies in man.
     Genetika (Leningrad) 1967; 5:63.
     
694. Leisti J, Gripenberg U, Kivalo E, Palo J, von Schoulz B, Suomalainen E.
     Two patients with a 46,XX,Er chromosome constitution.
     Acta Paediatr Scand. 1968 Sep;57(5):441-7.
     
695. Bernard R, Stahl A, Giraud F, Hartung M, Brusquet Y.
     Encéphalopathie avec dysmorphie complexe et chromosome 17-18 en anneau [Encephalopathy with complex dysmorphia and 17-18 ring chromosome].
     Ann Pediatr (Paris). 1966 Aug-Sep;13(8):525-9. French.
     
696. Lejeune J, Rethore M-O, Berger R, Baheux G, Chabrun J.
     Sur un cas de chromosome 18 en anneau.
     Ann Genet 1966; 9:173.
     
697. Sinha AK.
     Human ring chromosome syndromes. An "E" ring associated with an abnormal phenotype.
     Acta Genet Med Gemellol (Roma). 1968 Jul;17(3):487-94.
     
698. Borgaonkar DS, Bias, WB, Scott GI, Wadia RS, Borkowf SP.
     IgA and abnormal chromosome 18.
     Lancet 1969; I:206-207.
699. Dahlqvist A, Hall B, Källén B.
     Blood cell galactose-1-phosphate uridyl transferase activity in dysplastic patients, with and without chromosomal aberrations.
     Hum Hered. 1969;19(6):628-40.
     
700. Dumars KW, Carnahan LG, Barrett RV.
     Median facial cleft associated with ring E chromosome.
     J Med Genet. 1970 Mar;7(1):86-90.
     
701. Bocian E, Mazurczak T, Buława E, Stańczak H, Rowicka G.
     Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
     J Med Genet. 1993 Jul;30(7):614-5.
     
702. Brodtkorb E, Torbergsen T, Nakken KO, Andersen K, Gimse R, Sjaastad O.
     Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome?
     Acta Neurol Scand. 1994 Oct;90(4):232-40.
703. Meloni A, Boccone L, Angius L, Loche S, Falchi AM, Cao A.
     Hypothalamic growth hormone deficiency in a patient with ring chromosome 18.
     Eur J Pediatr. 1994 Feb;153(2):110-2.
704. Tavin E, Stecker E, Marion R.
     Nasal pyriform aperture stenosis and the holoprosencephaly spectrum.
     Int J Pediatr Otorhinolaryngol. 1994 Jan;28(2-3):199-204.
705. Los FJ, van den Berg C, Braat PG, Cha'ban FK, Kros JM, Van Opstal D.
     Ring chromosome 18 in a fetus with only facial anomalies.
     Am J Med Genet. 1996 Dec 11;66(2):216-20.
706. Esmer MC, Carnevale A, Gómez L, del Castillo V, Frías S.
     Hibridación in situ con fluorescencia en seis pacientes con alteraciones del cromosoma 18 y en siete con cromosomas marcadores [Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes].
     Rev Invest Clin. 1996 Jan-Feb;48(1):27-33. Spanish.
     
707. De Bruyn A, Souery D, Mendelbaum K, Mendlewicz J, Van Broeckhoven C.
     Linkage analysis of families with bipolar illness and chromosome 18 markers.
     Biol Psychiatry. 1996 Apr 15;39(8):679-88.
     
708. Aritaki S, Takagi A, Someya H, Jun L.
     Growth hormone neurosecretory dysfunction associated with ring chromosome 18.
     Acta Paediatr Jpn. 1996 Oct;38(5):544-8.
709. Nakayama J, Hamano K, Shimakura Y, Iwasaki N, Nakahara C, Imoto N, Kobayashi K, Arinami T, Hamaguchi H.
     Abnormal myelination in a patient with ring chromosome 18.
     Neuropediatrics. 1997 Dec;28(6):335-7.
710. Bird LM, Pretorius DH, Mendoza AE, Jones MC.
     Anencephaly with holoprosencephalic facies due to ring chromosome 18.
     Clin Dysmorphol. 1997 Oct;6(4):351-8.
711. Thies U, Bartels I, von Beust G, Bink K, Hansmann I, Rehder H, Suren A, Zoll B.
     Prenatal diagnosis and fetopathological findings in a fetus with ring chromosome 18.
     Fetal Diagn Ther. 1998 Sep-Oct;13(5):315-20.
712. Litzman J, Brysová V, Gaillyová R, Thon V, Pijácková A, Michalová K, Zemanová Z, Lokaj J.
     Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome.
     J Paediatr Child Health. 1998 Feb;34(1):92-4.
713. Dacou-Voutetakis C, Sertedaki A, Maniatis-Christidis M, Sarri C, Karadima G, Petersen MB, Xaidara A, Kanariou M, Nicolaidou P.
     Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18.
     J Med Genet. 1999 Feb;36(2):156-8.
714. Tocharoentanaphol C, Parinayok R, Punthuwattana N, Kangwanpong D.
     Fluorescence in situ hybridization: a rapid analysis to verify chromosome aberrations.
     J Med Assoc Thai. 2000 Mar;83 Suppl 1:S76-81.
715. Yardin C, Esclaire F, Terro F, Baclet MC, Barthe D, Laroche C.
     First familial case of ring chromosome 18 and monosomy 18 mosaicism.
     Am J Med Genet. 2001 Dec 1;104(3):257-9.
716. Yanoff M, Rorke LB, Niederer BS.
     Ocular and cerebral abnormalities in chromosome 18 deletion defect.
     Am J Ophthalmol. 1970 Sep;70(3):391-402.
     
717. Craddock N, Owen M.
     Chromosomal aberrations and bipolar affective disorder.
     Br J Psychiatry. 1994 Apr;164(4):507-12.
     
718. Krag-Olsen B, Brask BH, Jacobsoen P, Nielsen J.
     Is there an increased risk of psychoses in patients with ring 18 and deletion long arm 18?
     In: Schmid W, Nielsen J (eds) Human behavior and genetics. Elsevier/North Holland Biomedical Press, Amsterdam, pp 211-220.
     
719. Tanaka R, Iwasaki N, Hayashi M, Nakayama J, Ohto T, Takahashi M, Numano T, Homma K, Hamano K, Sumazaki R.
     Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination.
     Brain Dev. 2012 Mar;34(3):234-7.
720. Stankiewicz P, Brozek I, Hélias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, Balcerska A, Wozniak A, Kardaś I, Wirth J, Mazurczak T, Limon J.
     Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
     Am J Med Genet. 2001 Jul 1;101(3):226-39.
721. Fischer W, Dermitzel A, Osmers R, Pruggmayer M.
     Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18.
     Prenat Diagn. 2001 Jun;21(6):481-3.
722. Baumer A, Giovannucci Uzielli ML, Guarducci S, Lapi E, Röthlisberger B, Schinzel A.
     Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.
     Am J Med Genet. 2002 Nov 15;113(1):101-4.
723. Miller K, Pabst B, Ritter H, Nürnberg P, Siebert R, Schmidtke J, Arslan-Kirchner M.
     Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.
     Hum Genet. 2003 Apr;112(4):343-7.
724. Veltman JA, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns JP, Admiraal R, Terhal P, Lacombe D, van Kessel AG, Smeets D, Schoenmakers EF, van Ravenswaaij-Arts CM.
     Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.
     Am J Hum Genet. 2003 Jun;72(6):1578-84.
     
725. Kellermayer R, Gyarmati J, Czakó M, Tészás A, Masszi G, Ertl T, Kosztolányi G.
     Mos 46,XX,r(18).ish r(18)(18ptel-,18qtel-)/46,XX.ish del(18)(18ptel-): an example for successive ring chromosome formation.
     Am J Med Genet A. 2005 Dec 15;139(3):234-5.
     
726. Thomas JV, Mezzasalma DF, Teixeira AM, Campos LN, Luescher JL, Beserra IC, Guimarães MM.
     Deficiência de hormônio do crescimento, hipotireoidismo e cromossomo 18 em anel: relato de caso [Growth hormone deficiency, hypothyroidism and ring chromosome 18: case report].
     Arq Bras Endocrinol Metabol. 2006 Oct;50(5):951-6. Portuguese.
727. Sripanidkulchai R, Suphakunpinyo C, Jetsrisuparb C, Luengwattanawanich S.
     Thai girl with ring chromosome 18 (46XX, r18).
     J Med Assoc Thai. 2006 Jun;89(6):878-81.
728. Souraty N, Sanlaville D, Chédid R, Le Lorc'h M, Maurin ML, Ghanem L, Maalouf S, Vekemans M, Mégarbané A.
     Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.
     Eur J Med Genet. 2007 Sep-Oct;50(5):379-85.
729. Carreira IM, Mascarenhas A, Matoso E, Couceiro AB, Ramos L, Dufke A, Mazauric M, Stressig R, Kosyakova N, Melo JB, Liehr T.
     Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.
     J Histochem Cytochem. 2007 Nov;55(11):1123-8.
730. Mello AL, Crotwell PL, Flanagan JD, Woltanski AR, Keppen LD, Van Eerden P, Boyle JG, Stein Q.
     Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18.
     S D Med. 2008 Sep;61(9):327-9, 331.
731. Gereltzul E, Baba Y, Suda N, Shiga M, Inoue MS, Tsuji M, Shin I, Hirata Y, Ohyama K, Moriyama K.
     Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.
     J Hum Genet. 2008;53(10):941-946.
     
732. Koç A, Kan D, Karaer K, Ergün MA, Karaoğuz MY, Gücüyener K, Hinreiner S, Liehr T, Perçin EF.
     An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
     Eur J Pediatr. 2008 Jun;167(6):655-9.
733. McGoey RR, Jackson K, Marble M.
     45,X/47,XX,+18 and ring (18) mosaicism with mild phenotypic features including normal stature: clinical report and review of the literature.
     Clin Dysmorphol. 2009 Jan;18(1):59-61.
734. Chen CP, Kuo YT, Lin SP, Su YN, Chen YJ, Hsueh RY, Lin YH, Wu PC, Lee CC, Chen YT, Wang W.
     Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization.
     Taiwan J Obstet Gynecol. 2010 Sep;49(3):327-32.
735. Benini R, Saint-Martin C, Shevell MI, Bernard G.
     Abnormal myelination in ring chromosome 18 syndrome.
     J Child Neurol. 2012 Aug;27(8):1042-7.
736. Ono T, Okuma M, Hamada T, Motohashi N, Moriyama K.
     A case of ring chromosome 18 syndrome treated with a combined orthodontic-prosthodontic approach.
     Cleft Palate Craniofac J. 2010 Mar;47(2):201-10.
737. Stein QP, Flanagan JD, Knutsen-Larson S, Van Eerden P.
     First-trimester genetic diagnosis: a series of six cases.
     S D Med. 2010 Mar;63(3):83-5.
     
738. Bagherizadeh E, Behjati F, Saberi SH, Shafeghati Y.
     Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18.
     Indian J Hum Genet. 2011 May;17(2):111-3.
739. Lo-Castro A, El-Malhany N, Galasso C, Verrotti A, Nardone AM, Postorivo D, Palmieri C, Curatolo P.
     De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.
     Eur J Med Genet. 2011 May-Jun;54(3):329-32.
740. Jain N, Reitnauer PJ, Rao KW, Aylsworth AS, Calikoglu AS.
     Autoimmune polyendocrinopathy associated with ring chromosome 18.
     J Pediatr Endocrinol Metab. 2011;24(9-10):847-50.
741. Celep F, Sonmez FM, Kul S, Ucar F, Karaguzel A.
     Ring chromosome 18 in a child with febrile seizures.
     Genet Couns. 2011;22(2):165-71.
742. Balci S, Tümer C, Karaca C, Bartsch O.
     Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.
     Am J Med Genet A. 2011 May;155A(5):1129-35.
743. Ohkubo K, Ihara K, Ohga S, Ishimura M, Hara T.
     Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome.
     Thyroid. 2012 Oct;22(10):1080-3.
744. Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K.
     Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.
     Am J Med Genet A. 2012 Oct;158A(10):2621-3.
745. Spreiz A, Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M, Fauth C, Haberlandt E, Kim CA, Kulikowski LD, Meloni VA, Utermann G, Zschocke J, Melaragno MI, Kotzot D.
     Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
     J Pediatr. 2013 Oct;163(4):1174-8.e3.
746. Heydari S, Hassanzadeh F, Hassanzadeh Nazarabadi M.
     Ring chromosome 18: a case report.
     Int J Mol Cell Med. 2014 Fall;3(4):287-9.
747. Samli H, Özgöz A, Içduygu FM.
     A case with mosaic ring chromosome 18.
     Gazi Medical Journal. 2013;24:90–1.
748. Dobos M, Fekete G, Raff R, Schubert R, Szabó J, Halász Z, Lukács V, Eggermann T, Schwanitz G.
     Ring chromosome 18: Clinical, cytogenetic and molecular genetic studies on four patients.
     Int J Hum Genet 2004;4:197-200.
     
749. Dötsch J, Förster, W, Kuhl PG.
     Ringchromosom 18 bei einem Neugeborenen.
     Monatsschr Kinderheilk 1995; 143:489-492.
     
750. Kagimoto Y, Mizuashi M, Kikuchi K, Aiba S.
     A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome.
     J Dermatol. 2014 Jun;41(6):559-60.
751. Balci S, Zschocke J, Kotzot D, Ergün MA, Spreiz A.
     Formation of a familial ring chromosome 18 investigated by SNP-array analysis.
     Am J Med Genet A. 2014 Jul;164A(7):1854-6.
752. Celmeli F, Turkkahraman D, Cetin Z, Mihci E, Yegin O.
     Selective IgM deficiency in a boy with ring chromosome 18.
     J Investig Allergol Clin Immunol. 2014;24(6):442-4.
753. Zhang YN, Reheman P, Du HW, Wang LJ.
     [Growth hormone deficiency in a girl with ring 18 chromosome syndrome].
     Zhongguo Dang Dai Er Ke Za Zhi. 2014 Sep;16(9):947-8. Chinese.
754. Ji X, Liang D, Sun R, Liu C, Ma D, Wang Y, Hu P, Xu Z.
     Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing.
     BMC Med Genet. 2015 Jul 30;16:57.
755. Golinko MS, Mason K, Nett K, Riski JE, Williams JK.
     Sphincterplasty for velopharyngeal insufficiency in the child without a cleft-palate: Etiologies and speech outcomes.
     J Craniofac Surg. 2015 Oct;26(7):2067-71.
756. Carter E, Heard P, Hasi M, Soileau B, Sebold C, Hale DE, Cody JD.
     Ring 18 molecular assessment and clinical consequences.
     Am J Med Genet A. 2015 Jan;167A(1):54-63.
     
757. Soileau B, Hasi M, Sebold C, Hill A, O'Donnell L, Hale DE, Cody JD.
     Adults with chromosome 18 abnormalities.
     J Genet Couns. 2015 Aug;24(4):663-74.
     
758. Anzai M, Arai-Ichinoi N, Takezawa Y, Endo W, Inui T, Sato R, Kikuchi A, Uematsu M, Kure S, Haginoya K.
     Patchy white matter hyperintensity in ring chromosome 18 syndrome.
     Pediatr Int. 2016 Sep;58(9):919-22.
759. Cui C, Shu W, Li P.
     Fluorescence in situ hybridization: Cell-based genetic diagnostic and research applications.
     Front Cell Dev Biol. 2016 Sep 5;4:89.
     
760. Yao H, Yang C, Huang X, Yang L, Zhao W, Yin D, Qin Y, Mu F, Liu L, Tian P, Liu Z, Yang Y.
     Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study.
     BMC Med Genet. 2016 Jul 22;17(1):49.
761. Zlotina A, Nikulina T, Yany N, Moiseeva O, Pervunina T, Grekhov E, Kostareva A.
     Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects.
     Mol Cytogenet. 2016 Feb 18;9:18.
762. Calvo Campoverde K, Gean E, Piquer Gibert M, Martinez Valdez L, Deyà-Martínez A, Rojas Volquez M, Esteve-Sole A, Juan M, Plaza AM, Alsina L.
     Humoral deficiency in three paediatric patients with genetic diseases.
     Allergol Immunopathol (Madr). 2016 May-Jun;44(3):257-62.
763. Chau A, Ramesh KH, Jagannath AD, Arora S.
     Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18.
     F1000Res. 2017 Nov 2;6:1940.
764. Cody JD, Hasi-Zogaj M, Heard P, Hill A, Rupert D, Sebold C, Soileau B, Hale DE.
     The chromosome 18 clinical resource center.
     Mol Genet Genomic Med. 2018 May;6(3):416-421.
     
765. Lyu Y, Wang X, Zhang K, Gao M, Ma J, Liu X, Gai Z, Liu Y.
     [Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):1010-1014. Chinese.
766. Lammert DB, Miedema D, Ochotorena J, Dosa N, Petropoulou K, Lebel RR, Sakonju A.
     Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18.
     Clin Case Rep. 2019 Sep 27;7(11):2087-2091.
767. Sheth H, Trivedi S, Liehr T, Patel K, Jain D, Sheth J, Sheth F.
     Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report.
     BMC Med Genomics. 2020 Sep 24;13(1):141.
768. Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D.
     From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
     Genome Med. 2019 Nov 7;11(1):68.
     
769. Eras N.
     A case of ring chromosome 18 with single umbilical artery detected during prenatal period.
     Mol Syndromol. 2020 Nov;11(4):217-222.
770. Varas-Meis E, Delgado-Vicente S, Fernández-Canga P, Rodríguez Prieto MA.
     Blaschkoid hypermelanosis in a patient with ring 18 chromosome.
     Indian J Dermatol Venereol Leprol. 2020 May-Jun;86(3):316-318.
771. Khabarova AA, Pristyazhnyuk IE, Orlova PA, Nikitina TV, Kashevarova AA, Lopatkina ME, Belyaeva EO, Sukhanova NN, Nazarenko LP, Lebedev IN, Serov OL.
     Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18.
     Stem Cell Res. 2020 Dec;49:102076.
772. Wang J, Xiao L, Wang J, Ding Z, Ni J, Long X.
     Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature.
     Neurol Sci. 2021 Dec;42(12):5231-5239.
773. Maekawa M, Yasuda M, Sasaki H, Tachinami Y, Mizuta K.
     Anesthetic management of a patient with ring 18 syndrome.
     Anesth Prog. 2021 Oct 1;68(3):178-179.
774. Rezaeizadeh T, Delshad E, Mansour Samaei N, Gholipour N.
     A case report of ring chromosome 18 with systemic Lupus erythematosus and Crohn's disease.
     Mol Biol Rep. 2022 Feb;49(2):1085-1088.
775. Ding Z, Mei S, Zhang B, Kong J, Liu L, Zhang Z, Wang C, Zhang Y.
     [Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Sep 10;41(9):1110-1116. Chinese.
776. Malik P, Branson H, Yoon G, Shroff M, Blaser S, Krishnan P.
     Imaging findings and MRI patterns in a cohort of 18q chromosomal abnormalities.
     AJNR Am J Neuroradiol. 2024 Oct 3;45(10):1578-1585. 
777. Matyskova D, Richtrova M, Novotna A, Koskova O.
     Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms.
     Orphanet J Rare Dis. 2024 Dec 20;19(1):478.
     
778. Uchida IA, Lin CC.
     Ring formation of chromosomes nos. 19 and 20.
     Cytogenetics. 1972;11(3):208-15.
779. Jacobs PA, Matsuura JS, Mayer M, Newlands IM.
     A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities.
     Clin Genet. 1978 Jan;13(1):37-60.
     
780. Sybert VP, Bradley CM, Salk D.
     Mosaicism for ring 19: a case report.
     Clin Genet. 1988 Dec;34(6):382-5.
781. Yung JF, Sobel DB, Hoo JJ.
     Origin of 46,XY/46,XY,r(19) mosaicism.
     Am J Med Genet. 1990 Aug;36(4):391-3.
782. Gillessen-Kaesbach G, Ngo NT.
     Ring 19 mosaicism detected during prenatal diagnosis.
     Prenat Diagn. 1990 Oct;10(10):683-7.
783. Sawyer JR, Rowe RA, Hassed SJ, Cunniff C.
     High-resolution cytogenetic characterization of telomeric associations in ring chromosome 19.
     Hum Genet. 1993 Mar;91(1):42-4.
784. Flejter WL, Finlinson D, Root S, Nguyen W, Brothman AR, Viskochil D.
     Familial ring (19) chromosome mosaicism: case report and review.
     Am J Med Genet. 1996 Dec 18;66(3):276-80.
785. Hermsen MA, Tijssen M, Acero IH, Meijer GA, Ylstra B, Toral JF.
     High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
     Eur J Med Genet. 2005 Jul-Sep;48(3):310-8. 
786. Jalal SM, Law ME.
     Utility of multicolor fluorescent in situ hybridization in clinical cytogenetics.
     Genet Med. 1999 Jul-Aug;1(5):181-6.
787. Speevak MD, Smart C, Unwin L, Bell M, Farrell SA.
     Molecular characterization of an inherited ring (19) demonstrating ring opening.
     Am J Med Genet A. 2003 Aug 30;121A(2):141-5.
788. Parisi F, Pistone FM, Romano L, Gimelli G, Romano C.
     Epilessia intrattabile: cromosomopatia 20 ad anello.
     Boll Lega It Epil 1993; 82/83: 205-6. 
     
789. de Grouchy J, Plachot M, Sebaoun M, Bouchard R.
     Chromosome F en anneau (46,XY, Fr) chez un gar con multimalformé [F fing chromosome (46, XY, Fr) in a boy with multiple abnormalities].
     Ann Genet. 1972 Jun;15(2):121-6. French.
     
790. Atkins L, Miller WL, Salam M.
     A ring-20 chromosome.
     J Med Genet. 1972 Sep;9(3):377-80.
791. Faed M, Morton HG, Robertson J.
     Ring F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease.
     J Med Genet. 1972 Dec;9(4):470-3.
     
792. Herva R, Saarinen I, Leikkonen L.
     The r(20) syndrome.
     J Med Genet. 1977 Aug;14(4):281-3.
793. Jalbert P, Jalbert H, Sele B, Tachker D, Bost M, Meynard R, Pison H.
     Chromosome 20 en anneau: un nouveau syndrome [Ring-20 chromosome: a new syndrome].
     Ann Genet. 1977 Dec;20(4):258-62. French.
794. Stewart JM, Cavanagh N, Hughes DT.
     Ring 20 chromosome in a child with seizures, minor anomalies, and retardation.
     Arch Dis Child. 1979 Jun;54(6):477-9.
795. Burnell RH, Stern LM, Sutherland GR.
     A case of ring 20 chromosome with cardiac and renal anomalies.
     Aust Paediatr J. 1985 Nov;21(4):285-6.
796. Porfirio B, Valorani MG, Giannotti A, Sabetta G, Dallapiccola B.
     Ring 20 chromosome phenotype.
     J Med Genet. 1987 Jun;24(6):375-7.
797. Thomsen SG, Petersen MB, Andersen EA, Ostergaard GZ, Lindenberg S.
     A case of the ring 20 syndrome.
     Ann Genet. 1989;32(2):111-3.
798. Back E, Voiculescu I, Brünger M, Wolff G.
     Familial ring (20) chromosomal mosaicism.
     Hum Genet. 1989 Sep;83(2):148-54.
799. Halal F, Chitayat D, Parikh H, Rosenblatt B, Tranchemontagne J, Vekemans M, Potier M.
     Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20.
     Am J Med Genet. 1992 Jun 1;43(3):576-9.
800. Brandt CA, Kierkegaard O, Hindkjaer J, Jensen PK, Pedersen S, Therkelsen AJ.
     Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.
     Clin Genet. 1993 Jul;44(1):26-31.
801. Lancman ME, Penry JK, Asconape JJ, Brotherton TA.
     Number 20 ring chromosome: a case with complete seizure control.
     J Child Neurol. 1993 Apr;8(2):186-7.
     
802. Holopainen I, Penttinen M, Lakkala T, Aärimaa T.
     Ring chromosome 20 mosaicism in a girl with complex partial seizures.
     Dev Med Child Neurol. 1994 Jan;36(1):70-3.
803. Takahashi Y, Shigematsu H, Kubota H, Inoue Y, Fujiwara T, Yagi K, Seino M.
     Nonphotosensitive video game-induced partial seizures.
     Epilepsia. 1995 Aug;36(8):837-41.
804. Inoue Y, Fujiwara T, Matsuda K, Kubota H, Tanaka M, Yagi K, Yamamori K, Takahashi Y.
     Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome.
     Brain. 1997 Jun;120 ( Pt 6):939-53.
805. Kamuro K, Yoshimi S, Morikawa T.
     [A new epileptic syndrome: ring chromosome 20--interhemispheric peak delay of spikes].
     No To Hattatsu. 1998 Sep;30(5):431-2. Japanese.
806. Canevini MP, Sgro V, Zuffardi O, Canger R, Carrozzo R, Rossi E, Ledbetter D, Minicucci F, Vignoli A, Piazzini A, Guidolin L, Saltarelli A, dalla Bernardina B.
     Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.
     Epilepsia. 1998 Sep;39(9):942-51.
807. Yamadera H, Kobayashi K, Sugai K, Suda H, Kaneko S.
     A study of ring 20 chromosome karyotype with epilepsy.
     Psychiatry Clin Neurosci. 1998 Feb;52(1):63-8.
808. Kobayashi K, Inagaki M, Sasaki M, Sugai K, Ohta S, Hashimoto T.
     Characteristic EEG findings in ring 20 syndrome as a diagnostic clue.
     Electroencephalogr Clin Neurophysiol. 1998 Oct;107(4):258-62.
809. Ieshima A, Takeshita K.
     Chromosome abnormalities and epileptic seizures.
     Jinrui Idengaku Zasshi. 1988 Mar;33(1):49-60.
     
810. lwasaki M, Nakahari K, Mono M.
     A case report of the ring (20) chromosome, showing intractable epilepsy and behavior problems.
     Brain Dev. 1982; 4:41.
811. Saito S, Higurashi M, Hukuzawa H.
     A case of ring (20) chromosomal mosaicism.
     Rinshounouha 1997; 39: 131-138. Japanese.
     
812. Sanna R, Fogu G, Tondi M. Serra G, Pasquali F, Danesino C.
     In: Neri G, Di Natale P, Forabosco A, Savi M (eds).
     Atti del 6° congresso nazionale FISME, Monduzzi Bologna.1991, 367-372.
     
813. Fukushige T, Otsubo S, Kaname T, Matsuda Y.
     Epilepsy in cases with ring chromosome 20 [abstract].
     No to Hattatsu 1995; 27 Suppl: 183.
     
814. Petit J, Roubertie A, Inoue Y, Genton P.
     Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases.
     Epileptic Disord. 1999 Dec;1(4):237-41.
815. Roubertie A, Petit J, Genton P.
     Chromosome 20 en anneau: un syndrome épileptique identifiable. A propos de 2 cas [Ring chromosome 20: an identifiable epileptic syndrome].
     Rev Neurol (Paris). 2000 Feb;156(2):149-53. French.
816. García-Cruz D, Vásquez AI, Perez-Rulfo D, Dávalos NO, Peñaloza J, García-Ortiz JE, Patiño-García B, Sánchez-Corona J.
     Ring-20-syndrome and loss of telomeric regions.
     Ann Genet. 2000 Jul-Dec;43(3-4):113-6.
817. Nishiwaki T, Hirano M, Kumazawa M, Ueno S.
     Mosaicism and phenotype in ring chromosome 20 syndrome.
     Acta Neurol Scand. 2005 Mar;111(3):205-8.
818. Serrano-Castro PJ, Aguilar-Castillo MJ, Olivares-Romero J, Jiménez-Machado R, Molina-Aparicio MJ.
     Cromosoma 20 en anillo: una canalopatía epiléptica? [Ring chromosome 20: an epileptic channel disorder?].
     Rev Neurol. 2001 Feb 1-15;32(3):237-41. Spanish.
819. Augustijn PB, Parra J, Wouters CH, Joosten P, Lindhout D, van Emde Boas W.
     Ring chromosome 20 epilepsy syndrome in children: electroclinical features.
     Neurology. 2001 Sep 25;57(6):1108-11.
820. García DM, Ortiz R, Gómez A, Barriuso E.
     Ring 20 chromosome syndrome with epilepsy and dysmorphic features: a case report.
     Epilepsia. 2001 Dec;42(12):1607-10.
821. Chawla J, Sucholeiki R, Jones C, Silver K.
     Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature.
     J Child Neurol. 2002 Oct;17(10):778-80.
822. Gomes Mda M, Lucca I, Bezerra SA, Llerena J Jr, Moreira DM.
     Epilepsy and ring chromosome 20: case report.
     Arq Neuropsiquiatr. 2002 Sep;60(3-A):631-5.
823. Serrano-Castro PJ.
     Ring chromosome 20 epilepsy syndrome in children: electroclinical features.
     Neurology. 2002 Mar 26;58(6):987; author reply 987.
824. Ortiz-Sáenz de Santa María MR, Barriuso-Pérez E, Soto-Alvarez MI, Moche-Loeri JA.
     Cromosoma 20 en anillo, hipersensibilidad al valproato y encefalopatía hiperamoniémica [Ring chromosome 20, hypersensitivity to valproate and hyperammonemic encephalopathy].
     Rev Neurol. 2003 Oct 16-31;37(8):733-5. Spanish. Erratum in: Rev Neurol. 2003 Nov 1-15;37(9):900.
825. Tanaka N, Kamada K, Takeuchi F.
     Ictal magnetoencephalographic study in a patient with ring 20 syndrome.
     J Neurol Neurosurg Psychiatry. 2004 Mar;75(3):488-90.
826. Gonzalez-Delgado M, Salas J, Hernando I, Calleja S, Hernandez C.
     Cromosoma 20 en anillo: un síndrome identificable por las características electroclínicas [Ring chromosome 20: a distinctive syndrome identifiable by electroclinical diagnosis].
     Neurologia. 2004 May;19(4):215-9. Spanish.
827. Biraben A, Semah F, Ribeiro MJ, Douaud G, Remy P, Depaulis A.
     PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy.
     Neurology. 2004 Jul 13;63(1):73-7.
828. Locharernkul C, Ebner A, Promchainant C.
     Ring chromosome 20 with nonconvulsive status epilepticus: electroclinical correlation of a rare epileptic syndrome.
     Clin EEG Neurosci. 2005 Jul;36(3):151-60.
829. Alpman A, Serdaroglu G, Cogulu O, Tekgul H, Gokben S, Ozkinay F.
     Ring chromosome 20 syndrome with intractable epilepsy.
     Dev Med Child Neurol. 2005 May;47(5):343-6.
830. Macleod S, Mallik A, Tolmie JL, Stephenson JB, O'Regan ME, Zuberi SM.
     Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.
     Brain Dev. 2005 Mar;27(2):118-24.
831. Bouilleret V, Semah F, Biraben A, Taussig D, Chassoux F, Syrota A, Ribeiro MJ.
     Involvement of the basal ganglia in refractory epilepsy: an 18F-fluoro-L-DOPA PET study using 2 methods of analysis.
     J Nucl Med. 2005 Mar;46(3):540-7.
832. Nishiwaki T, Hirano M, Kumazawa M, Ueno S.
     Mosaicism and phenotype in ring chromosome 20 syndrome.
     Acta Neurol Scand. 2005 Mar;111(3):205-8.
833. Nobutoki T, Sugai K, Fukumizu M, Hanaoka S, Sasaki M.
     [Continuous midazolam infusion for refractory nonconvulsive status epilepticus in children].
     No To Hattatsu. 2005 Sep;37(5):369-73. Japanese.
834. Serrano-Castro PJ, Aguilar Castillo MJ.
     Regarding: 'Mosaicism and seizure onset in ring chromosome 20 syndrome'.
     Acta Neurol Scand. 2005 Sep;112(3):202; author reply 203.
835. Zou YS, Van Dyke DL, Thorland EC, Chhabra HS, Michels VV, Keefe JG, Lega MA, Feely MA, Uphoff TS, Jalal SM.
     Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review.
     Am J Med Genet A. 2006 Aug 1;140(15):1696-706.
836. de Falco FA, Olivieri P, de Falco A, Concolino D, Battaglia F, Verardi R, Grande G, Stabile M.
     Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years.
     Seizure. 2006 Sep;15(6):449-53.
837. Ville D, Kaminska A, Bahi-Buisson N, Biraben A, Plouin P, Telvi L, Dulac O, Chiron C.
     Early pattern of epilepsy in the ring chromosome 20 syndrome.
     Epilepsia. 2006 Mar;47(3):543-9.
838. Parr JR, Pang K, Mollett A, Zaiwalla Z, Selway R, McCormick D, Jayawant S.
     Epilepsy responds to vagus nerve stimulation in ring chromosome 20 syndrome.
     Dev Med Child Neurol. 2006 Jan;48(1):80; author reply 80.
839. Elghezal H, Hannachi H, Mougou S, Kammoun H, Triki C, Saad A.
     Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.
     Eur J Med Genet. 2007 Nov-Dec;50(6):441-5.
840. Herrgård E, Mononen T, Mervaala E, Kuusela L, Aikiä M, Stenbäck U, Pääkkönen L, Airaksinen RL, Kälviäinen R.
     More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosome.
     Epilepsy Res. 2007 Jan;73(1):122-8.
841. Jacobs J, Bernard G, Andermann E, Dubeau F, Andermann F.
     Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome.
     Epileptic Disord. 2008 Dec;10(4):254-9.
842. Vignoli A, Canevini MP, Darra F, La Selva L, Fiorini E, Piazzini A, Lazzarotto F, Zucca C, Dalla Bernardina B.
     Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children.
     Epilepsia. 2009 Nov;50(11):2420-7.
843. Barbour K, Tian N, Yozawitz EG, Wolf S, McGoldrick PE, Sands TT, Nelson A, Basma N, Grinspan ZM.
     Population-based study of rare epilepsy incidence in a US urban population.
     Epilepsia. 2024 Aug;65(8):2341-2353.
844. Giardino D, Vignoli A, Ballarati L, Recalcati MP, Russo S, Camporeale N, Marchi M, Finelli P, Accorsi P, Giordano L, La Briola F, Chiesa V, Canevini MP, Larizza L.
     Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
     BMC Med Genet. 2010 Oct 12;11:146.
845. Del Sole A, Chiesa V, Lucignani G, Vignoli A, Giordano L, Lecchi M, Canevini MP.
     Exploring dopaminergic activity in ring chromosome 20 syndrome: a SPECT study.
     Q J Nucl Med Mol Imaging. 2010 Oct;54(5):564-9.
846. Cappanera S, Passamonti C, Zamponi N.
     New association between ring chromosome 20 syndrome and hypomelanosis of Ito.
     Pediatr Neurol. 2011 Nov;45(5):341-3.
847. Villéga F, Ngayap H, Espil-Taris C, Husson M, Rooryck-Thambo C, Arveiler B, Lacombe D, Pédespan JM.
     Polymorphisme d'expression de l'atteinte épileptique et cognitive du syndrome du chromosome 20 en anneau [Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome].
     Arch Pediatr. 2011 Apr;18(4):394-6. French.
848. Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB.
     Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.
     J Med Genet. 2011 Jan;48(1):1-9.
849. Cignini P, Dugo N, Giorlandino C, Gauci R, Spata A, Capriglione S, Cafà EV.
     Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH.
     J Prenat Med. 2012 Oct;6(4):72-3.
850. Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB.
     Ring chromosome 20.
     Eur J Med Genet. 2012 May;55(5):381-7.
851. Tanaka A, Ohtake M, Yoshimi T, Suzuki T, Abe I, Iwasaki H, Sue H, Kaito K.
     [A case of epilepsy with ring chromosome 20 syndrome].
     Rinsho Byori. 2012 Sep;60(9):847-52. Japanese.
852. Meletti S, Vignoli A, Benuzzi F, Avanzini P, Ruggieri A, Pugnaghi M, Nichelli P, Canevini MP.
     Ictal involvement of the nigrostriatal system in subtle seizures of ring chromosome 20 epilepsy.
     Epilepsia. 2012 Aug;53(8):e156-60.
853. Dimova P, Boneva I, Todorova A, Minotti L, Kahane P.
     Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration.
     Epileptic Disord. 2012 Jun;14(2):181-6.
854. Gahr M, Kerling F, Ludolph A, Plener P.
     Cognitive impairment and abnormal behaviour related to ring chromosome 20 aberration.
     J Autism Dev Disord. 2012 Jun;42(6):1146-8.
855. Elens I, Vanrykel K, De Waele L, Jansen K, Segeren M, Van Paesschen W, Ceulemans B, Boel M, Frijns JP, Buyse G, Lagae L.
     Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature.
     Epilepsy Behav. 2012 Apr;23(4):409-14.
856. Kamoun FF, Ellouz EJ, Hsairi IG, Triki CC.
     Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome.
     Neurosciences (Riyadh). 2012 Jan;17(1):74-7.
857. Radhakrishnan A, Menon RN, Hariharan S, Radhakrishnan K.
     The evolving electroclinical syndrome of "epilepsy with ring chromosome 20".
     Seizure. 2012 Mar;21(2):92-7.
858. Cabras V, Erriu M, Loi M, Milia A, Montaldo C, Nucaro AL.
     Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two BAC clones in 20q11.21-q11.22 defined by genome array-CGH.
     J Clin Pathol. 2012 Sep;65(9):851-3.
859. Alsubhi S, Berrahmoune S, Dudley RWR, Dufresne D, Simard Tremblay E, Srour M, Myers KA.
     Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
     J Neurol. 2024 May;271(5):2503-2508.
860. Tezer FI, Aktas D, Alikasifoglu M, Saygi S.
     Two siblings with similar phenotypes: one of them had ring 20 chromosome.
     Clin EEG Neurosci. 2013 Jan;44(1):58-61.
861. Vicino W, Muccioli L, Pondrelli F, Licchetta L, Stipa C, Mostacci B, Vito LD, Ferri L, Cancellerini C, Sold M, Tinuper P, Bisulli F.
     Real-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy.
     Seizure. 2023 Oct;111:39-41.
862. Walleigh DJ, Legido A, Valencia I.
     Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine.
     Pediatr Neurol. 2013 Nov;49(5):368-9.
863. Zambrelli E, Vignoli A, Nobili L, Didato G, Mastrangelo M, Turner K, Canevini MP.
     Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern.
     Funct Neurol. 2013 Jan-Mar;28(1):47-53.
864. Tezer FI, Aktas D, Alikasifoglu M, Saygi S.
     Two siblings with similar phenotypes: one of them had ring 20 chromosome.
     Clin EEG Neurosci. 2013 Jan;44(1):58-61.
865. Avanzini P, Vaudano AE, Vignoli A, Ruggieri A, Benuzzi F, Darra F, Mastrangelo M, Dalla Bernardina B, Nichelli PF, Canevini MP, Meletti S.
     Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20.
     Clin Neurophysiol. 2014 Feb;125(2):239-49.
866. Vega-Zelaya L, Alonso-Cerezo C, Quesada JF, Sola RG, Pastor J.
     Características electroclínicas de un paciente con síndrome del cromosoma 20 en anillo [Electroclinical characteristics of a patient with ring chromosome 20 syndrome].
     Rev Neurol. 2014 May 16;58(10):450-4. Spanish.
867. Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S.
     Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study.
     Epilepsia. 2014 Mar;55(3):403-13.
868. Watson A, Watson D, Taylor C.
     Life with r(20)-Ring chromosome 20 syndrome.
     Epilepsia. 2014 July 16; 56(3):356-8.
869. Wechapinan T, Sri-Udomkajorn S, Suwannachote S.
     Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report.
     J Med Assoc Thai. 2014 Jun;97 Suppl 6:S239-42.
870. Arévalo-Sáenz A, Torres CV, Pastor J, Alonso-Cerezo C, Sola RG.
     Estimulacion del nucleo centromediano en la epilepsia farmacorresistente asociada al cromosoma 20 en anillo [Stimulation of the centromedian nucleus in refractory epilepsy associated to ring chromosome 20].
     Rev Neurol. 2015 Jun 16;60(12):548-52. Spanish.
871. Parravicini S, Pasca L, Zanaboni MP, Varesio C, Rognone E, Totaro M, Gana S, Rossi E, De Giorgis V.
     Electroclinical Improvement in a patient with ring chromosome 20 syndrome treated with Zonisamide: A case report.
     J Pediatr Genet. 2021 Apr 1;12(3):219-223.
872. Kishore VK, Viswanathan LG, Asranna A, Kenchiah R, Chowdary M R, Sinha S.
     Intravenous methylprednisolone is a potential add on therapy for ring chromosome 20 syndrome.
     Seizure. 2022 Mar;96:118-120.
873. Ling J, Yeung WL, Hon KL, Lo IFM, Luk HM, Fung CW, Leung AKC.
     Successful treatment of drug-resistant seizures secondary to ring 20 mosaicism with perampanel as an add-on antiepileptic drug.
     Case Rep Pediatr. 2022 May 26;2022:7414628.
874. Freire de Moura M, Flores-Guevara R, Gueguen B, Biraben A, Renault F.
     Long-term EEG in patients with the ring chromosome 20 epilepsy syndrome.
     Epilepsia. 2016 May;57(5):e94-6.
875. Hirano Y, Oguni H, Nagata S.
     Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome.
     Brain Dev. 2016 Sep;38(8):746-9.
876. Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP.
     Epilepsy in ring chromosome 20 syndrome.
     Epilepsy Res. 2016 Dec;128:83-93.
877. Rodan LH, Zak M, Stavropoulos J, Joseph-George AM, Minassian BA.
     Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome.
     Neurol Genet. 2016 Jan 14;2(1):e43.
878. Onder H, Tezer FI.
     Significant improvements of EEG and clinical findings with oral Lacosamide in a patient with ring chromosome 20.
     Clin EEG Neurosci. 2016 Oct;47(4):330-332.
879. Yi Z, Pan H, Li L.
     [A patient with ring chromosome 20 syndrome and AGTR2 polymorphisms].
     Zhonghua Er Ke Za Zhi. 2017 May 4;55(5):388-389. Chinese.
880. Giuliano L, Fatuzzo D, Mainieri G, Sofia V, Zappia M.
     Phenotypical heterogeneity of morpheic seizures in ring chromosome 20 syndrome: a videopolysomnographic evidence.
     Neurol Sci. 2017 May;38(5):925-926.
881. Inal A, Chaumette B, Soleimani M, Guerrot AM, Goldenberg A, Lebas A, Gerardin P, Ferrafiat V.
     Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified.
     Clin Case Rep. 2018 Oct 12;6(11):2234-2239.
882. Gago-Veiga AB, Toledano R, García-Morales I, Pérez-Jiménez MA, Bernar J, Gil-Nagel A.
     Specificity of electroclinical features in the diagnosis of ring chromosome 20.
     Epilepsy Behav. 2018 Mar;80:215-220.
883. Unterberger I, Dobesberger J, Schober H, Krabichler B, Lamina C, Schatz U, Zschocke J, Luef G, Kotzot D, Fauth C.
     A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.
     Eur J Med Genet. 2019 Nov;62(11):103564.
884. Patil AA, Vinayan KP, Roy AG.
     Epilepsy in ring chromosome 20 syndrome might have variable clinical features.
     Ann Indian Acad Neurol. 2020 Sep-Oct;23(5):718-722.
885. Peron A, Catusi I, Recalcati MP, Calzari L, Larizza L, Vignoli A, Canevini MP.
     Ring chromosome 20 syndrome: Genetics, clinical characteristics, and overlapping phenotypes.
     Front Neurol. 2020 Dec 8;11:613035.
886. Yamagishi H, Goto M, Osaka H, Kuwajima M, Muramatsu K, Yamagata T.
     Praxis-induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome.
     Epileptic Disord. 2020 Apr 1;22(2):214-218.
887. Tayama T, Mori T, Goji A, Toda Y, Kagami S.
     Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome.
     Brain Dev. 2020 Jun;42(6):473-476.
888. Corrêa T, Venâncio AC, Galera MF, Riegel M.
     Candidate genes associated with delayed neuropsychomotor development and seizures in a patient with ring chromosome 20.
     Case Rep Genet. 2020 Jan 21;2020:5957415.
889. Gordon D, Watson A, Desurkar A, Cowley L, Hiemstra TF.
     Assessing the role of ketogenic dietary therapy in ring chromosome 20 syndrome: A patient-led approach.
     Epilepsia Open. 2020 Mar 11;5(2):295-300.
890. Balabhadra A, Parekh M, Patil A, Jayalakshmi S.
     A case of drug-resistant epilepsy associated with ring chromosome 20.
     Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):805-807.
891. Myers KA, Bennett MF, Hildebrand MS, Coleman MJ, Zhou G, Hollingsworth G, Cairns A, Riney K, Berkovic SF, Bahlo M, Scheffer IE.
     Transcriptome analysis of a ring chromosome 20 patient cohort.
     Epilepsia. 2021 Jan;62(1):e22-e28.
892. Borkovic M, Cuturilo G, Cerovac N.
     Ring chromosome 20: A further contribution to the delineation of epileptic phenotype.
     Vojnosanit. Pregl. 2022, 79: 196–200.
     
893. Yang K, Hao W, Liu W, Jia Y.
     A case report of 14 ring chromosome syndrome.
     Chinese Journal of Medical Genetics. 2024; 4(7):895-896. (Chinese)
894. Zhou Y, Xu L, Yan L, Chen C, Li H
     Prenatal diagnosis of a fetus with mosaic chromosome 2.
     Chinese Journal of Medical Genetics. 2024; 41(11):1356-1362. (Chinese)
895. Chen H, Jing P, Yang S, Lei L, Li X.
     A case of prenatal diagnosis of complete ring chromosome 15.
     Chinese Journal of Perinatal Medicine. 2024; 27(1):74-77. (Chinese)
896. Tao J, Tao S, Lu T, Hou F, Jin H.
     Clinical phenotype and genetic analysis of a fetus with mosaic chromosome 21.
     International Journal of Genetics. 2024;47(5):376-380. (Chinese)
897. Guo M, Li Y.
     A case of mosaicism with ring chromosome 4.
     Chinese Journal of Medical Genetics. 2010; 27(1):110. (Chinese)
898. Zhuang Y, Liu Y, Yang X, Wen B. 
     A case of ring chromosome 10.
     Chinese Medical Journal. 2014; 94(2):160. (Chinese)
899. Liu Y, Ding Y, Li D, Yang Z, Song J, Wang S, Yang Y, Qin J.
     A case of refractory epilepsy caused by chromosome 20 ring syndrome and prenatal diagnosis in the sibling.
     Chinese Journal of Practical Pediatrics. 2017; 32(14):1108-1110. (Chinese)
900. Pan L, Sun Y, Xu C.
     A case of ring chromosome 22.
     Chinese Journal of Pediatrics. 2013; 51(4):308-309. (Chinese)
901. Zhang X, Chao L, Li L, Su Q.
     A case of chromosome 9 ring syndrome.
     China Basic Medicine. 2017; 24:1109-1110. (Chinese)
902. Wu L, Guo L, Zhong Y, Zhang Y, Xu L.
     45,X/46,X,r(Y)/46,X,der(Y),r (Y;Y) one case.
     Chinese Journal of Medical Genetics. 2016; 33(1):127-128. (Chinese)
903. Li R, Xu Z, Wang C, Zhang Z, Xia Z, Zhang Y, Li D.
     A case of mosaic 18-ring chromosome syndrome.
     Chinese Journal of Medical Genetics. 2023; 40(5):634-635. (Chinese)
904. Xu X, Li, Li Y, Zou S, Xiong D, Zhang X.
     Genetic analysis of a 12-ring chromosome.
     Journal of Clinical Laboratory Science. 2018; 36(11):809-812. (Chinese)
905. He X, Zhao P, Huang Y, Cai X, Lin J, Hu X, Bi B.
     A case report and literature review of occult penis caused by chromosome 6.
     Journal of Clinical Pediatrics. 2018; 36(4):245-248. (Chinese)
906. Song Y, Fan T, Zhao D.
     A case of mosaic chromosome 8 mosaicism.
     Chinese Journal of Medical Genetics. 2016; 33(4):568. (Chinese)
907. Jing H, Jiang Y, Tian T, Luo L, Deng S, Liu R.
     A case of ring chromosome 5.
     Chinese Journal of Medical Genetics. 2016; 33:744. (Chinese)
908. Lin J, Zhang J, Hou H.
     46,X,r(Y) combined with azoospermia in one case.
     China Clinical Case Database. 2023; 5(1):E01964. (Chinese)
909. Ye ZC, Zhao R, Zhu XY, Zhong Y.
     Two-color fluorescence in situ hybridization of a Turner syndrome with ring X-chromosome mosaicism.
     Chinese Journal of Medical Genetics. 2006; 23(6):700-701. (Chinese)
910. Novikova EA, Ponomareva TI, Perevezentsev OA, Kholodnaya TO, Burtsev DV.
     A case of association of frontal lobe epilepsy syndrome with ring 17 chromosome syndrome.
     Materials of scientific and practical conferences within the framework of the VI Russian Congress of Laboratory Medicine (RKLM 2020), 66-67 (abstract - Russian)
911. Nikulina TS, Zlotina AM, Yani NA, Moiseeva OM, Grekhov EV, Nikitina IL, Kostareva AA.
     Somatic mosaicism in patients with r(18) and congenital heart disorder.
     Translat Med. 2015; 2015(1):62-66 (Russian).
     
912. Dombrovskaya NV, Polodienko OB, Shapovalov AG, Shapovalenko IE.
     Congenital abnormalities in child with ring chromosome 21.
     Archives of Cellular Medicine. 2012; 21(2):146-149 (Russian).
913. Beresheva AK, Yurov IY, Kolotiy AD, Novikova IM, Yurov YB, VorsanovaSG.
     A mosaic form of the Shereshevsky—Turner syndrome with a ring X chromosome in an 8-year-old girl: Use of molecular cytogenetic diagnostic techniques.
     Ros Vestn Perinatol Pediat 2011; 5:30-37 (Russian).
914. Oparina NV, Solovova OA, Kalinenkova SG, Latypov AS, Bliznets EA, Stepanova AA, Chernykh VB.
     Family case of mosaic variant of Turner syndrome with ring X chromosome.
     Medical genetics 2019; 18(11): 36-45 (Russian).
915. Gerasimenko ON, Lindina LI, Koroleva TA, Sorokina IV, Klimov PV.
     Phenotypic effect of collected chromosomes (based on the results of the work of the MEDICAL GENETIC CONSULTATION of the ZONAL PERINATAL CENTER of NOVOKUZNETSK in 1992-2010).
     Abstracts of HUMAN GENETICS AND PATHOLOGY - Actual problems modern cytogenetics Collection of scientific works; 9; Tomsk - 2011:97-98 (Russian).
916. Al Nasiry S, Willekes C, Pieters M, Coumans A, Witters I.
     Prenatal diagnosis of ring chromosome 18.
     Ultrasound in Obstetrics & Gynecology. 2014; 44(Suppl.1):247.
917. Shibata K, Waldenmaier C, Hirsch W.
     A child with a 21-ring chromosome, 45XX,21minus-46,XX,21r investigated with the banding technique.
     Humangenetik. 1973;18(4):315-9.
918. Orye E, Craen M.
     A t(21q21q) ring chromosome.
     Hum Hered. 1974;24(3):253-8.
     
919. Kucerová M, Polívková Z.
     A case of a girl with a 21 ring chromosome.
     Hum Hered. 1974;24(1):100-4.
     
920. Gericke GS, Steyn MF, Retief AE, Thom JC, Van Niekerk WA.
     Clinical and cytogenetic aspects of the 21 deletion syndrome.
     S Afr Med J. 1975 Jun 7;49(24):959-64.
921. Kunze J, Doose H, Tolksdorf M.
     Dysplasie-Epilepsie-Syndrom bei Ringchromosom 21 [A dysplasia-epilepsy syndrome in a patient with ring chromosome 21].
     Neuropadiatrie. 1975 Nov;6(4):398-402. German.
922. Serra A, Singh-Kahlon DP.
     21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes.
     Hum Genet. 1976 Jul 7;33(1):47-53.
923. Neuhäuser G.
     Ringchromosom 21 [Ring chromosome 21].
     Hippokrates. 1976 Aug;47(3):246-7. German.
924. Larget-Piet L, Berthelot J, Guittet J, Hamon A, Larget-Piet A, Rouchy R.
     Chromosome 21 en anneau. A propos d'une nouvelle observation [Ring chromosome 21. A new case].
     Pediatrie. 1976 Sep;31(6):539-49. French.
925. Heyne K.
     Leukozytärer Sauerstoffverbrauch bei Chromosomopathien (Morbus Down, Ringchromosom 21, Cri-du-chat-Syndrom, Trisomie 18 und 22) [Oxygen consumption of leukocytes in chromosome abnormalities. (Down's syndrome, ring chromosome 21, cri-du-chat syndrome, trisomy 18 and 22)].
     Med Welt. 1980 Feb 15;31(7):251-4. German.
926. Ieshima A, Ogasawara N, Yamamoto Y, Kuroki Y.
     A case of r(21) with stigmata of atypical Down syndrome.
     Hum Genet. 1980;55(1):65-9.
     
927. Fioretti G, Pagano L, Renda S, Festa B, Rinaldi A, Celona A, Casullo C, Stabile M, Cavaliere ML, Ventruto V.
     Rassegna di sette casi di patologia autosomica di più raro riscontro. Trisomia 9p; monosomia 18q; ring 21; trisomia6p; trisomia 2q; traslocazione1;21 [Observation of 7 cases of rare autosomal pathology. Trisomy 9p; monosomy 18q; ring 21; trisomy 6p; trisomy 2q 1-21 translocation].
     Minerva Pediatr. 1980 Jun 30;32(12):807-14. Italian.
     
928. Matsubara T, Nakagome Y, Ogasawara N, Oka S, Yokochi T.
     Maternally transmitted extra ring (21) chromosome in a boy with Down's syndrome.
     Hum Genet. 1982;60(1):78-9.
     
929. Richer CL, Fitch N, Sitahal S, Murer-Orlando M, Jean P.
     Analysis of banding patterns in a case of ring chromosome 21.
     Am J Med Genet. 1981;10(4):323-31.
930. Pui CH, Williams DL, Scarborough V, Jackson CW, Price R, Murphy S.
     Acute megakaryoblastic leukaemia associated with intrinsic platelet dysfunction and constitution ring 21 chromosome in a young boy.
     Br J Haematol. 1982 Feb;50(2):191-200.
931. Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A.
     A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
     Genome Res. 2024 Nov 20;34(11):1774-1784.
932. Stetten G, Sroka B, Corson VL, Boehm CD.
     Prenatal detection of an unstable ring 21 chromosome.
     Hum Genet. 1984;68(4):310-3.
933. Wong C, Kazazian HH Jr, Stetten G, Earnshaw WC, Van Keuren ML, Antonarakis SE.
     Molecular mechanism in the formation of a human ring chromosome 21.
     Proc Natl Acad Sci U S A. 1989 Mar;86(6):1914-8.
934. Warren RJ, Rimoin DL.
     The G deletion syndromes.
     J Pediatr. 1970 Oct;77(4):658-63.
935. Warren RJ, Rimoin DL, Summitt RL.
     Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes.
     Am J Hum Genet. 1973 Jan;25(1):77-81.
936. Crandall BF, Weber F, Muller HM, Burwell JK.
     Identification of 21r and 22r chromosomes by quinacrine fluorescence.
     Clin Genet. 1972;3(4):264-70.
937. Palmer CG, Hodes ME, Reed T, Kojetin J.
     Four new cases of ring 21 and 22 including familial transmission of ring 21.
     J Med Genet. 1977 Feb;14(1):54-60. recheck!
     
938. Gripenberg U, Elfving J, Gripenberg L.
     A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.
     J Med Genet. 1972 Mar;9(1):110-5.
     
939. Armendares S, Buentello L, Cantu-Garza JM.
     Partial monosomy of a G group chromosome (45,XY,G-46,XY,Gr): report of a new case.
     Ann Genet. 1971 Mar;14(1):7-12.
     
940. Maeda T, Ohno M, Nishida H.
     Clinical and cytogenetic studies of two infants with partial monosomy G.
     Hum Genet. 1977 Mar 14;35(3):255-9.
     
941. Richmond HG, MacArthur P, Hunter D.
     A "G" deletion syndrome anti-mongolism.
     Acta Paediatr Scand. 1973 Mar;62(2):216-20.
     
942. Casalone R, Fraccaro M, Francesconi D, Pasquati F, Poloni L, Zuffardi L, Bellomi A, Crosti N, Lo Monaco GB, Patriarca PL, Seiventi M.
     Five unusual karyotypes in Down's syndrome.
     Ann Genet. 1979; 22:17-20.
     
943. Dallapiccola B, Bianco I, Brinchi V, Santulli B, Scarano G, Sicolo A, Stabile M, Ventruto V.
     t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndrome.
     Ann Genet. 1982;25(1):56-8.
     
944. Ponzio G, Carozzi F, Dragone E, Spada A, Brignone S, De Marchi M, Carbonara A.
     Descrizione di un caso di cromosoma 21 ad anello ed inversione pericentrica del cromosoma Y [Description of a case of ring chromosome 21 and pericentric inversion of Y chromosome].
     Pathologica. 1983;75 Suppl:276-9. Italian.
945. Schmid W, Tenconi R, Baccichetti C, Caufin D, Schinzel A.
     Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy.
     Am J Med Genet. 1983 Nov;16(3):323-9.
946. Cabrol C, Werner-Favre C, Wyss M, Pitmon D, Engel E.
     Acute lymphoblastic leukemia in two children with a congenital chromosome anomaly: familial inv(11)(p15q13) in one and ring chromosome No. 21 in the other.
     Cancer Genet Cytogenet. 1983 Jan;8(1):67-74.
947. Ferrante E, Vignetti P, Antonelli M, Bruni L, Bertasi S, Chessa L.
     Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature.
     Helv Paediatr Acta. 1983 Mar;38(1):73-80.
     
948. Rhomberg K.
     Ring chromosome 21 in a healthy woman with three spontaneous abortions.
     Hum Genet. 1984;67(1):120.
949. Howell RT, McDermott A, Gardner A, Dickinson V.
     Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.
     J Med Genet. 1984 Aug;21(4):310-4.
     
950. Carlo Stella N, Barberi I, Corrado F, Triolo O.
     Ring chromosome 21. Observation in a female infant.
     Ann Genet. 1984;27(4):249-51.
951. Philip N, Baeteman MA, Mattei MG, Mattei JF.
     Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations.
     Eur J Pediatr. 1984 Apr;142(1):61-4.
952. Kleczkowska A, Fryns JP.
     Ring chromosome 21 in a normal female.
     Ann Genet. 1984;27(2):126-8.
953. Huret JL, Leonard C, Kanoui V.
     Ring chromosome 21 in a phenotypically normal but infertile man.
     Clin Genet. 1985 Dec;28(6):541-5.
954. Kazazian HH Jr, Antonarakis SE, Wong C, Trusko SP, Stetten G, Oliver M, Potter MJ, Gusella JF, Watkins PC.
     Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion.
     Ann N Y Acad Sci. 1985;450:33-42.
955. Cibis GW, Waeltermann J, Harris DJ.
     Peters' anomaly in association with ring 21 chromosomal abnormality.
     Am J Ophthalmol. 1985 Nov 15;100(5):733-4.
     
956. Van Keuren M, Drabkin H, Hart I, Harker D, Patterson D, Vora S.
     Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody.
     Hum Genet. 1986 Sep;74(1):34-40.
957. Aoki T, Yoshimitsu K, Itodagawa M, Okazaki H, Sugimoto T, Kobayashi Y.
     Ring chromosome 21 and SOD activity of blood cells.
     Acta Paediatr Scand. 1986 Nov;75(6):1055-8.
958. Dallapiccola B, De Filippis V, Notarangelo A, Perla G, Zelante L.
     Ring chromosome 21 in healthy persons: different consequences in females and in males.
     Hum Genet. 1986 Jul;73(3):218-20.
959. Gardner RJ, Monk NA, Clarkson JE, Allen GJ.
     Ring 21 chromosome: the mild end of the phenotypic spectrum.
     Clin Genet. 1986 Dec;30(6):466-70.
960. Fryns JP, Kleczkowska A.
     Ring chromosome 21 in the mother and 21/21 translocation in the fetus: karyotype: 45,XX,-21,-21,+t(21;21)(p11;q11).
     Ann Genet. 1987;30(2):109-10.
961. Miller K, Reimer A, Schulze B.
     Tandem duplication chromosome 21 in the offspring of a ring chromosome 21 carrier.
     Ann Genet. 1987;30(3):180-2.
962. Falchi AM, Orofino MG, Nucaro AL, De Virgiliis S, Cao A.
     Acute lymphoblastic leukemia in a child with constitutional ring chromosome 21.
     Cancer Genet Cytogenet. 1987 Aug;27(2):219-24.
963. Hertz JM.
     Familial transmission of a ring chromosome 21.
     Clin Genet. 1987 Jul;32(1):35-9.
964. Aronson DC, Jansweijer MC, Hoovers JM, Barth PG.
     A male infant with holoprosencephaly, associated with ring chromosome 21.
     Clin Genet. 1987 Jan;31(1):48-52.
965. Hoovers JM, Jansweijer MC.
     Holoprosencephaly associated with ring chromosome 21.
     Clin Genet. 1987 Sep;32(3):207.
966. Dalgleish R, Duckett DP, Woodhouse M, Shannon RS, Young ID.
     Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.
     J Med Genet. 1988 Dec;25(12):851-4.
967. Münke M, Foellmer B, Watkins PC, Cowan JM, Carroll AJ, Gusella JF, Francke U.
     Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes.
     Am J Hum Genet. 1988 Apr;42(4):542-9.
     
968. Sperry AO, Blasquez VC, Garrard WT.
     Dysfunction of chromosomal loop attachment sites: illegitimate recombination linked to matrix association regions and topoisomerase II.
     Proc Natl Acad Sci U S A. 1989 Jul;86(14):5497-501.
969. Zergollern L, Muzinić D, Raic Z.
     Ring chromosome 21.
     Acta Med Iugosl. 1989;43(2):147-56.
     
970. Chandley AC.
     The chromosomal basis of human infertility.
     Br Med Bull. 1979 May;35(2):181-6.
     
971. Kennerknecht I, Barbi G, Vogel W.
     Maternal transmission of ring chromosome 21.
     Hum Genet. 1990 Nov;86(1):99-101.
972. Ikeuchi T, Yamamoto K, Qiao F, Hayakawa K, Migita T, Nishikawa Y.
     Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line.
     Ann Genet. 1990;33(1):32-5.
973. Kosztolányi G, Méhes K, Hook EB.
     Inherited ring chromosomes: an analysis of published cases.
     Hum Genet. 1991 Jul;87(3):320-4. 1 case fam ring 21 mentioned from own abstract
     
974. Falik-Borenstein TC, Pribyl TM, Pulst SM, Van Dyke DL, Weiss L, Chu ML, Kraus J, Marshak D, Korenberg JR.
     Stable ring chromosome 21: molecular and clinical definition of the lesion.
     Am J Med Genet. 1992 Jan 1;42(1):22-8.
975. McGinniss MJ, Kazazian HH Jr, Stetten G, Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A, Laca Z, Mikkelsen M, Patil SR, Schinzel AA, Tranebjaerg L, Antonarakis SE.
     Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.
     Am J Hum Genet. 1992 Jan;50(1):15-28.
     
976. McGinniss MJ, Rosenberg C, Stetten G, Schinzel AA, Binkert F, Petersen MB, Kearns WG, Kazazian HH Jr, Pearson PL, Antonarakis SE.
     Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.
     Am J Med Genet. 1993 Jul 1;46(6):647-51.
977. Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M.
     "Compensatory" uniparental disomy of chromosome 21 in two cases.
     J Med Genet. 1994 Jul;31(7):534-40.
978. Meire FM, Fryns JP.
     Lens dislocation and optic nerve hypoplasia in ring chromosome 21 mosaicism.
     Ann Genet. 1994;37(3):150-2.
979. Melkild A.
     Ringkromosom 21 som årsak til utviklingsforstyrrelse. En sykehistorie fra barnepsykiatrisk praksis [Ring chromosome 21 as a cause of developmental disorder. A case report from the practice of child psychiatry].
     Tidsskr Nor Laegeforen. 1994 Jan 10;114(1):36-8. Norwegian.
980. Conte RA, Luke S, Verma RS.
     Characterization of a ring chromosome 21 by FISH-technique.
     Clin Genet. 1995 Oct;48(4):188-91.
981. Melnyk AR, Ahmed I, Taylor JC.
     Prenatal diagnosis of familial ring 21 chromosome.
     Prenat Diagn. 1995 Mar;15(3):269-73.
982. Palmer CG, Blouin JL, Bull MJ, Breitfeld P, Vance GH, Van Meter T, Weaver DD, Heerema NA, Colbern SG, Korenberg JR, et al.
     Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia.
     Am J Med Genet. 1995 Jul 17;57(4):527-36.
     
983. Ohga S, Nakao F, Narazaki O, Fusazaki N, Aoki T, Kamesaki K, Hara T.
     Hypogammaglobulinaemia in a patient with ring chromosome 21.
     Arch Dis Child. 1997 Sep;77(3):252-4.
984. Valero R, Marfany G, Gil-Benso R, Ibáñez MA, López-Pajares I, Prieto F, Rullan G, Sarret E, Gonzàlez-Duarte R.
     Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.
     J Med Genet. 1999 Sep;36(9):694-9.
985. Layman LC, McDonough PG, Cohen DP, Maddox M, Tho SP, Reindollar RH.
     Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals.
     Fertil Steril. 2001 Jun;75(6):1148-55.
986. Streubel B, Valent P, Lechner K, Fonatsch C.
     Amplification of the AML1(CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21.
     Cancer Genet Cytogenet. 2001 Jan 1;124(1):42-6.
987. Keppler-Noreuil KM, Welch JL, Major HJ, Qiau Q, Jordan DK, Patil SR.
     Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.
     Dev Med Child Neurol. 2002 Jan;44(1):64-7.
988. Muroya K, Yamamoto K, Fukushima Y, Ogata T.
     Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation.
     Am J Med Genet. 2002 Jul 15;110(4):332-7.
989. Hou CE, Schlaggar BL, Racette BA.
     Dystonia in a patient with ring chromosome 21.
     Mov Disord. 2003 Dec;18(12):1547-9.
990. Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D, Albertson DG, Norton ME, Cotter PD.
     Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR.
     Am J Med Genet A. 2003 Jul 30;120A(3):365-9.
991. McIlree ME, Tulloch WS, Newsam JE.
     Studies on human meiotic chromosomes from testicular tissue.
     Lancet. 1966; i, 679-682.
     
992. Rope AF, Hinton RB, Spicer RL, Blough-Pfau R, Saal HM.
     Dilated ascending aorta in a child with ring chromosome 21 syndrome.
     Am J Med Genet A. 2004 Oct 1;130A(2):191-5.
993. Pardal Fernández JM, Jerez García P, Carrascosa Romero MC, Marco Giner J.
     Cromosomopatía con anillación del 21 (r21) y epilepsia [Chromosome 21 ring (r21) and epilepsy].
     An Pediatr (Barc). 2004 Apr;60(4):379-81. Spanish.
994. Zhu XY, Zhao R, Ye ZC, Peng YG, Tan YQ.
     [Cytogenetic analysis and phenotype location analysis on the karyotype of a ring chromosome 21 syndrome].
     Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):682-3. Chinese.
995. Crombez EA, Dipple KM, Schimmenti LA, Rao N.
     Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21.
     Clin Dysmorphol. 2005 Oct;14(4):183-187.
996. Cho YG, Park TW, Lee CS, Choi SI.
     Concurrence of ring 21 and trisomy 21 in children of normal parents.
     Yonsei Med J. 2005 Apr 30;46(2):284-8.
     
997. Hoo JJ, Stein CK.
     "Zwilling" versus "Tai Chi" configuration of double-sized ring chromosome.
     Am J Med Genet A. 2007 Apr 15;143A(8):903-5.
     
998. Yumura Y, Saito K, Ogawa T, Suzuki K, Sato K, Kubota Y, Iwasaki A.
     [Clinical investigation of infertile males with chromosomal anomalies].
     Hinyokika Kiyo. 2007 Feb;53(2):87-91. Japanese.
999. Capaccio P, Clemente IA, Marchisio P, Selicorni A, Esposito S, Pignataro L.
     Videoendoscopic rehabilitation of iatrogenous Stensen-duct-acquired atresia in a patient with ring chromosome 21 syndrome and drooling.
     J Pediatr Surg. 2008 Nov;43(11):e17-20.
1000. Bertini V, Valetto A, Uccelli A, Tarantino E, Simi P.
      Ring chromosome 21 and reproductive pattern: a familial case and review of the literature.
      Fertil Steril. 2008 Nov;90(5):2004.e1-5.
1001. Hammoud I, Gomes DM, Bergere M, Wainer R, Selva J, Vialard F.
      Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype.
      Fertil Steril. 2009 Mar;91(3):930.e13-5.
1002. Quiroga R, Roselló M, Martinez F, Ferrer-Bolufer I, Monfort S, Oltra S, Hernandez MC, Orellana C.
      Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.
      Reprod Biomed Online. 2009 Sep;19(3):415-7.
1003. Fiorini M, Piovani G, Schumacher RF, Magri C, Bertini V, Mazzolari E, Notarangelo L, Notarangelo LD, Barlati S.
      ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency.
      J Allergy Clin Immunol. 2009 Dec;124(6):1356-8.
1004. Tuysuz B, Yavuz A, Ozdil M, Caferler J, Ozon H.
      Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy.
      Genet Couns. 2010;21(1):61-7.
1005. Guran S, Rosti RO, Sarıci SÜ, Torun D, Kozan S, Bahçe M.
      Rare chromosomal complement of trisomy 21 in a boy conceived only by IVF.
      Reprod Biomed Online. 2010 Nov;21(5):721-2; author reply 723.
      
1006. Verhoeven WM, Van Bon B, Egger JI, Hoischen A, Doelman JC.
      An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation.
      Acta Neuropsychiatr. 2010 Aug;22(4):188-94.
1007. Papoulidis I, Manolakos E, Siomou E, Kefalas K, Thomaidis L, Liehr T, Vetro A, Athanasiadis A, Zuffardi O, Petersen MB.
      A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.
      Prenat Diagn. 2010 Jun;30(6):586-8.
1008. Mazzaschi RL, Love DR, Hayes I, George A.
      Inheritance of a ring chromosome 21 in a couple undergoing in vitro fertilization (IVF): A case report.
      Case Rep Genet. 2011;2011:158086.
1009. Specchio N, Carotenuto A, Trivisano M, Cappelletti S, Digilio C, Capolino R, Di Capua M, Fusco L, Vigevano F.
      Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature.
      Am J Med Genet A. 2011 Apr;155A(4):911-4.
1010. Chen CP, Lin YH, Chou SY, Su YN, Chern SR, Chen YT, Town DD, Chen WL, Wang W.
      Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3.
      Taiwan J Obstet Gynecol. 2012 Mar;51(1):71-6.
1011. Zhang HZ, Xu F, Seashore M, Li P.
      Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases.
      Cytogenet Genome Res. 2012;136(3):180-7.
1012. Arslan M, Yiş U, Vurucu S, Tunca Y, Unay B, Akin R.
      Ring chromosome 21 in the differential diagnosis of waddling gait.
      Brain Dev. 2012 Oct;34(9):792-5.
1013. Samarth RM, Gandhi P, Pandey H, Maudar KK.
      Mosaicism for trisomy 21 and ring (21) in a male born to normal parents: a case report.
      Gene. 2012 Dec 10;511(1):109-12.
1014. Siragusa M, Lentini M, Schepis C.
      Agminated lentiginosis in a patient with ring chromosome 21.
      Eur J Dermatol. 2012 Nov-Dec;22(6):801-3.
1015. Militti L, Alfonsi M, Palka C, Soranno A, Calabrese G, Palka G, Zori RT, Guanciali-Franchi P.
      A mosaic ring chromosome 21 in a patient with mild intellectual disability not evidenced by array-CGH.
      J Genet Syndr Gene Ther 2013;4:207.
      
1016. Burgess T, Downie L, Pertile MD, Francis D, Glass M, Nouri S, Pszczola R.
      Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature.
      Case Rep Genet. 2014;2014:965401.
1017. Wang H, Wang Y, Wu L, Xie L.
      [Analysis of a infertile female with ring 21 chromosome using combined techniques].
      Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):761-4. Chinese.
1018. Cetin Z, Altiok-Clark O, Sevuk M, Berker Karauzum S.
      Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia.
      Andrologia. 2015 Feb;47(1):112-5.
1019. Talvik TA, Mikelsaar AVN.
      A new case of ringchromosome of the group 21–22(Gx?).
      Genetika. 1968; 30(1):129-133.
1020. Magenis RE, Armendares S, Hecht F, Weleber RG, Overton K.
      Identification by fluorescence of two G rings: (46,XY,21r) G deletion syndrome I and (46, XX, 22r) G deletion syndrome II.
      Ann Genet. 1972 Dec;15(4):265.
1021. Burillo-Sanz S, Vargas MT, Morales-Camacho RM, Caballero-Velázquez T, Sánchez J, García-Lozano JR, Pérez de Soto I, Prats-Martín C, Bernal R, Pérez-Simón JA.
      RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes.
      Hematol Oncol. 2017 Dec;35(4):894-899.
1022. Norman M, Wainstein B, Anazodo A, Turner A, Ma C, Payne K, Tangye SG, Gray P.
      Combined immunodeficiency with ring chromosome 21.
      J Clin Immunol. 2018 Apr;38(3):251-256.
1023. Lafabregue E, Chaby G, Vabres P, Carmi E.
      Alopécie, dysplasie auriculaire et déficit intellectuel en lien avec une délétion 21q terminale [Alopecia, deformed ear and mental retardation associated with terminal 21q deletion].
      Ann Dermatol Venereol. 2019 Sep;146(8-9):563-570. French.
1024. Rose R, Venkatesh A, Pietilä S, Jabeen G, Jagadeesh SM, Seshadri S.
      Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
      J Obstet Gynaecol Res. 2019 Apr;45(4):830-840. also 3 cases r(22)
      
1025. Onur Cura D, Bora E, Ozkalayci H, Kirbiyik O, Kutbay YB, Ercal D, Cankaya T.
      Unexpected coexistence of a derivative t(21;21) and complementary mosaic r(21) in a female with multiple miscarriages.
      Cytogenet Genome Res. 2019;158(2):83-87.
1026. Vormittag-Nocito E, Ni H, Schmidt ML, Lindgren V.
      Thrombocytopenia and predisposition to acute myeloid leukemia due to mosaic ring 21 with loss of RUNX1: Cytogenetic and molecular characterization.
      Mol Syndromol. 2019 Jan;9(6):306-311.
1027. Simsek-Kiper PO, Oguz S, Ergen FB, Utine GE, Alikasifoglu M, Haliloglu G.
      A revisited diagnosis of collagen VI related muscular dystrophy in a patient with a novel COL6A2 variant and 21q22.3 deletion.
      Neuropediatrics. 2020 Dec;51(6):445-449.
1028. Schuy J, Eisfeldt J, Pettersson M, Shahrokhshahi N, Moslem M, Nilsson D, Dahl N, Shahsavani M, Falk A, Lindstrand A.
      Partial monosomy 21 mirrors gene expression of trisomy 21 in a patient-derived neuroepithelial stem cell model.
      Front Genet. 2022 Feb 4;12:803683.
1029. Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Town DD, Wang W.
      Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion.
      Taiwan J Obstet Gynecol. 2021 Jan;60(1):157-160.
1030. Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Lee CC, Chen LF, Wang W.
      Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 21 associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening.
      Taiwan J Obstet Gynecol. 2022 Mar;61(2):359-363.
1031. Ambulkar PS, Liehr T, Jain M, Waghmare J, Gangane N, Narang P, Pal AK.
      Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies.
      J Genet. 2023;102:44.
1032. Ji Y, Xu Y, Sun L, Ge Y, Cai M, Wu Q.
      [Clinical features and genetic analysis of two fetuses with ring chromosome 21 mosaicism].
      Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Aug 10;40(8):1032-1035. Chinese.
1033. Moon JU, Yum SK.
      Mimicking hypoxic-ischemic encephalopathy in a newborn with 21q deletion originating from ring chromosome 21.
      Children (Basel). 2023 Aug 27;10(9):1461.
1034. De John KO, De Quintal H, Mathibe MD, Albertus N, Opie JJ.
      A rare case of acute megakaryoblastic leukaemia with constitutional ring chromosome 21.
      Br J Haematol. 2023 Sep;202(5):912.
1035. Berkay EG, Karaman B, Başaran S.
      A rare ring chromosome 21 abnormality is associated with azoospermia in two different phenotypically normal cases.
      Syst Biol Reprod Med. 2023 Oct;69(5):387-393. 
1036. Weleber RG, Hecht F, Giblett ER.
      Ring-G chromosome, a new G-deletion syndrome?
      Am J Dis Child. 1968 Apr;115(4):489-93.
      
1037. Chauvel PJ, Schindeler JD, Warren RJ.
      G-deletion syndrome II.
      Humangenetik. 1972;14(2):164-6. 
1038. Nelson R, Anderson CM.
      Long arm deletion of chromosome 22, with protein-losing enterophathy.
      Proc Royal Acad Sci. 1972; 65(12):21-23. 
1039. Lindenbaum RH, Bobrow M, Barber L.
      Monozygotic twins with ring chromosome 22.
      J Med Genet. 1973 Mar;10(1):85-9.
1040. Stoll C, Rohmer A, Sauvage P.
      Chromosome 22 en anneau r(22): identification par dénaturation thermique ménagée [22-ring chromosome: identification by controlled heat denaturation].
      Ann Genet. 1973 Sep;16(3):193-7. French.
      
1041. Veall RM, Rundle AT, Chitham RC, Saldana-Garcia P.
      A profoundly mentally handicapped woman with a ring chromosome 22.
      J Ment Defic Res. 1975 Sep-Dec;19(3-4):225-43. 
1042. Stewart A, Richards BW.
      A note on a patient with a ring-22 chromosome identified by banding.
      J Ment Defic Res. 1976 Jun;20(2):95-8. 
1043. Rethore MO, Noël B, Couturier J, Prieur M, Lafourcade J, Lejeune J.
      Le syndrome r (22). A propos de 4 nouvelles observations [The r(22) syndrome, Apropos of 4 new cases].
      Ann Genet. 1976 Jun;19(2):111. French.
      
1044. Brookfield DS, Walker S.
      A case of ring chromosome.
      J Med Genet. 1976 Dec;13(6):530-2. 
1045. Hunter AG, Ray M, Wang HS, Thompson DR.
      Phenotypic correlations in patients with ring chromosome 22.
      Clin Genet. 1977 Oct;12(4):239-49.
      
1046. Howard-Peebles PN.
      Indications for chromosome analysis illustrated by a case of ring 22.
      J Hered. 1977 Jul-Aug;68(4):268-9. 
1047. Dallapiccola B, Brinchi V, Curatolo P.
      Variability of r(22) chromosomes phenotypical expression.
      Acta Genet Med Gemellol (Roma). 1977;26(3-4):287-90. 
1048. Woods CG, Bankier A, Curry J, Sheffield LJ, Slaney SF, Smith K, Voullaire L, Wellesley D.
      Asymmetry and skin pigmentary anomalies in chromosome mosaicism.
      J Med Genet. 1994 Sep;31(9):694-701. 
1049. Brinchi V, Curatolo P, Di Franco C, Dallapiccola B.
      Due nuovi casi di cromosoma 22 ad anello [2 new cases of chromosome 22 with ring structure].
      Pathologica. 1979 May-Jun;71(1013):369. Italian.
      
1050. Aller V, Abrisqueta JA, de Torres ML, Martín-Lucas MA, Pérez-Castillo A, Del Mazo J.
      An r(22)(p11 leads to q13) in a moderately mentally retarded girl.
      Hum Genet. 1979 Oct 1;51(2):157-62.
      
1051. Sakuragawa N, Adachi K, Hayashi M, Fukuhara N.
      Neurological complications of the ring (22) syndrome: a case report.
      Brain Dev. 1979;1(2):91-6. 
1052. Funderburk SJ, Sparkes RS, Klisak I.
      Phenotypic variation in two patients with a ring chromosome 22.
      Clin Genet. 1979 Nov;16(5):305-10.
      
1053. Fryns JP, Van den Berghe H.
      Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother.
      Hum Genet. 1979 Mar 12;47(2):213-6.
      
1054. Fowler G, Kaiser-McCaw B, Hecht F.
      The use of sequential silver and quinacrine staining to determine the parental origin and breakpoints of a ring-22 human chromosome.
      Clin Genet. 1980 Oct;18(4):274-9. 
1055. Teyssier M, Moreau N.
      Chromosome 22 en anneau: r(22) [Ring chromosome 22: r(22)].
      Bull Assoc Anat (Nancy). 1982 Jun;66(193):273-82. French.
1056. Stoll C, Roth MP.
      Segregation of a 22 ring chromosome in three generations.
      Hum Genet. 1983;63(3):294-6.
      
1057. Teyssier M, Moreau N.
      Intérêt des techniques argentiques pour l'étude de chromosomes acrocentriques en anneau et de microchromosomes surnuméraires [Value of silver staining technics for the study of acrocentric ring chromosomes and supernumerary microchromosomes].
      C R Seances Soc Biol Fil. 1984;178(3):251-6. French.
1058. Teyssier M, Moreau N.
      Transmission familiale d'un chromosome 22 remanié [r(22) ou 22p0?] chez deux femmes normales [Familial transmission of deleted chromosome 22 [r(22)p0?] in two normal women].
      Ann Genet. 1985;28(2):116-8. French.  
1059. Reeve A, Shulman SA, Zimmerman AW, Cassidy SB.
      Methylphenidate therapy for aggression in a man with ring 22 chromosome. Report and literature review.
      Arch Neurol. 1985 Jan;42(1):69-72. 
1060. Crusi A, Engel E.
      Diagnostic prénatal de trois cas de chromosome G en anneau: un 21 et deux 22, dont un de novo [Prenatal diagnosis of 3 cases of ring G chromosomes: one 21 and two 22, one of which was de novo].
      Ann Genet. 1986;29(4):253-60. French. 
1061. Arinami T, Kondo I, Hamaguchi H, Nakajima S.
      Multifocal meningiomas in a patient with a constitutional ring chromosome 22.
      J Med Genet. 1986 Apr;23(2):178-80. 
1062. Gustavson KH, Arancibia W, Eriksson U, Svennerholm L.
      Deleted ring chromosome 22 in a mentally retarded boy.
      Clin Genet. 1986 Apr;29(4):337-41. 
1063. Duncan AM, Partington MW, Soudek D.
      Neurofibromatosis in a man with a ring 22: in situ hybridization studies.
      Cancer Genet Cytogenet. 1987 Mar;25(1):169-74.
      
1064. Pizzi E, de la Pierre L, Gargantini G, Andreoli A, Rogari P, Bonora G, Rossella F.
      Cromosoma 22 ad anello. Descrizione di un caso clinico [Ring chromosome 22. Description of a clinical case].
      Minerva Pediatr. 1987 Jun 30;39(11-12):525-9. Italian. 
1065. Lassen C, Mettey R, Berthier M, Bonneau D, Gremmo G, Hoppeler A.
      Chromosome 22 en anneau associé à un rein multikystique droit et un syndrome de jonction gauche [Ring chromosome 22 associated with right polycystic kidney and a left junction syndrome].
      Ann Pediatr (Paris). 1987 Jun;34(6):451-2. French.
1066. Watanabe H, Yamanaka T.
      Ring chromosome 22 46,XX,r(22)(p11.2->q13.3) presenting with leukemoid reaction.
      Clin Genet. 1988 Sep;34(3):206-7. 
1067. Naritomi K, Hirayama K.
      Determination of the breakpoints and the parental origin of a ring 22 chromosome: an analysis by high-resolution banding technique, quinacrine and silver stainings.
      Jinrui Idengaku Zasshi. 1988 Mar;33(1):67-73. 
1068. Ritter CL, Steele MW, Wenger SL, Cohen BA.
      Chromosome mosaicism in hypomelanosis of Ito.
      Am J Med Genet. 1990 Jan;35(1):14-7.
      
1069. Christodoulou J, Bankier A, Loughnan P.
      Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome.
      Am J Med Genet. 1990 Nov;37(3):422-4. 
1070. Gil Benso R, López Ginés C, Gregori Romero M, Galán Sánchez F, Pellín Pérez A.
      Cromosoma 22 en anillo. Descripción de un nuevo caso (1) [Ring chromosome 22. Description of a new case (1)].
      An Esp Pediatr. 1991 Jul;35(1):62-4. Spanish.
1071. Severien C, Felix S, Bartholomé K.
      Ring chromosome 22: a case report.
      Klin Padiatr. 1991 Nov-Dec;203(6):467-9. 
1072. Tommerup N, Warburg M, Gieselmann V, Hansen BR, Koch J, Petersen GB.
      Ring chromosome 22 and neurofibromatosis.
      Clin Genet. 1992 Oct;42(4):171-7. 
1073. Petrella R, Levine S, Wilmot PL, Ashar KD, Casamassima AC, Shapiro LR.
      Multiple meningiomas in a patient with constitutional ring chromosome 22.
      Am J Med Genet. 1993 Aug 15;47(2):184-6. 
1074. Salinas CF, Jastrzab JM, Cantu ES.
      Robin sequence associated with karyotypic mosaicism involving chromosome 22 abnormalities.
      Am J Hum Genet. 1994; 55:A92. 
1075. Urioste M, Visedo G, Sanchís A, Sentís C, Villa A, Ludeña P, Hortigüela JL, Martínez-Frías ML, Fernández-Piqueras J.
      Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.
      Am J Med Genet. 1994 Jan 1;49(1):77-82. 
1076. Sovner R, Stone A, Fox C.
      Ring chromosome 22 and mood disorders.
      J Intellect Disabil Res. 1996 Feb;40 ( Pt 1):82-6. 
1077. Joyce CA, Zorich B, Pike SJ, Barber JC, Dennis NR.
      Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
      J Med Genet. 1996 Dec;33(12):986-92. 
1078. Kehrer-Sawatzki H, Udart M, Krone W, Baden R, Fahsold R, Thomas G, Schmucker B, Assum G.
      Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2.
      Hum Genet. 1997 Jul;100(1):67-74. 
1079. Rubio A.
      March 1997--4 year old girl with ring chromosome 22 and brain tumor.
      Brain Pathol. 1997 Jul;7(3):1027-8. 
1080. Assumpcão Júnior FB.
      Brief report: a case of chromosome 22 alteration associated with autistic syndrome.
      J Autism Dev Disord. 1998 Jun;28(3):253-6.
1081. Frizzley JK, Stephan MJ, Lamb AN, Jonas PP, Hinson RM, Moffitt DR, Shkolny DL, McDermid HE.
      Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation.
      J Med Genet. 1999 Mar;36(3):237-41. 
1082. Gibbons B, Tan SY, Tam PY.
      Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy.
      Singapore Med J. 1999 Apr;40(4):273-5. 
1083. MacLean JE, Teshima IE, Szatmari P, Nowaczyk MJ.
      Ring chromosome 22 and autism: report and review.
      Am J Med Genet. 2000 Feb 28;90(5):382-5. 
1084. Koç A, Arisoy O, Pala E, Erdem M, Kaymak AO, Erkal O, Karaoğuz MY.
      Prenatal diagnosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion due to abnormal first trimester screening and choroid plexus cyst detected on ultrasound.
      J Obstet Gynaecol Res. 2009 Oct;35(5):978-82.
      
1085. Wenger SL, Boone LY, Cummins JH, Del Vecchio MA, Bay CA, Hummel M, Mowery-Rushton PA.
      Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.
      Am J Med Genet. 2000 Apr 24;91(5):351-4. 
1086. De Mas P, Chassaing N, Chaix Y, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E.
      Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome.
      J Med Genet. 2002 Apr;39(4):e17.
      
1087. Ishmael HA, Cataldi D, Begleiter ML, Pasztor LM, Dasouki MJ, Butler MG.
      Five new subjects with ring chromosome 22.
      Clin Genet. 2003 May;63(5):410-4.
      
1088. Chen CP, Chern SR, Chang TY, Lee CC, Chen LF, Tzen CY, Wang W, Lin CJ, Yang BP, Yang LS.
      Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction.
      Prenat Diagn. 2003 Jan;23(1):40-3. 
1089. Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette MF, Mattei MG.
      Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.
      J Med Genet. 2003 Sep;40(9):690-6.
      
1090. Starke H, Mitulla B, Beensen V, Trifonov V, Rubtsov N, Heller A, Ziegler M, Neumann A, Claussen U, Liehr T.
      First postnatal case of mosaic del(22)/r(22).
      Prenat Diagn. 2003 Sep;23(9):765-7.
      
1091. Nair-Miranda K, Murch A, Petterson B, Hill W, Nikolova-Hill A, Bradley L, Jackson S, Hallmayer J.
      An investigation into sub-telomeric deletions of chromosome 22 and pervasive developmental disorders.
      Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):99-104.
1092. Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A.
      Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.
      Am J Med Genet A. 2004 Oct 1;130A(2):196-9. 
1093. Delcán J, Orera M, Linares R, Saavedra D, Palomar A.
      A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum.
      Prenat Diagn. 2004 Aug;24(8):635-7. 
1094. Tsilchorozidou T, Menko FH, Lalloo F, Kidd A, De Silva R, Thomas H, Smith P, Malcolmson A, Dore J, Madan K, Brown A, Yovos JG, Tsaligopoulos M, Vogiatzis N, Baser ME, Wallace AJ, Evans DG.
      Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.
      J Med Genet. 2004 Jul;41(7):529-34.
1095. Zuccarello D, Dallapiccola B, Novelli A, Foresta C.
      Azoospermia in a man with a constitutional ring 22 chromosome.
      Eur J Med Genet. 2010 Nov-Dec;53(6):389-91.
      
1096. Jeffries AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J.
      Molecular and phenotypic characterization of ring chromosome 22.
      Am J Med Genet A. 2005 Aug 30;137(2):139-47.
      
1097. McClarren J, Donnenfeld AE, Ravnan JB.
      Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.
      Prenat Diagn. 2006 Dec;26(13):1212-5. 
1098. Lam ACF, Lai KKS, Lam STS.
      Distinctive phenotype in a case of ring chromosome 22 with features of 22q13 deletion syndrome.
      HK J Paedtr. 2006; 11(1):317-319.
      
1099. Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O.
      Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
      J Med Genet. 2008 Mar;45(3):147-54.
      
1100. Koç A, Karaer K, Ergün MA, Yirmibeş-Karaoğuz M, Kan D, Cansu A, Perçin F.
      A case with a ring chromosome 22.
      Turk J Pediatr. 2008 Mar-Apr;50(2):193-6. 
1101. Koç A, Arisoy O, Pala E, Erdem M, Kaymak AO, Erkal O, Karaoğuz MY.
      Prenatal diagnosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion due to abnormal first trimester screening and choroid plexus cyst detected on ultrasound.
      J Obstet Gynaecol Res. 2009 Oct;35(5):978-82.
      
1102. Denayer E, Brems H, de Cock P, Evans GD, Van Calenbergh F, Bowers N, Sciot R, Debiec-Rychter M, Vermeesch JV, Fryns JP, Legius E.
      Pathogenesis of vestibular schwannoma in ring chromosome 22.
      BMC Med Genet. 2009 Sep 22;10:97.
      
1103. Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D.
      13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
      J Med Genet. 2007 Jan;44(1):e60.
      
1104. Demirhan O, Tunç E.
      Phenotypic correlations in a patient with ring chromosome 22.
      Indian J Hum Genet. 2010 May;16(2):97-9.
      
1105. Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T.
      22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
      Am J Med Genet A. 2010 Mar;152A(3):573-81.
      
1106. McGaughran J, Hadwen T, Clark R.
      Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion.
      Clin Dysmorphol. 2010 Jan;19(1):28-29. 
1107. Rajesh H, Freckmann ML, Chapman M.
      Azoospermia and paternal autosomal ring chromosomes: case report and literature review.
      Reprod Biomed Online. 2011 Oct;23(4):466-70.
1108. Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O.
      Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
      PLoS Genet. 2011 Jul;7(7):e1002173.
1109. Gadji M, Krabchi K, Langis P, Aboura A, Périgny M, Côté S, Ferland M, Drouin R.
      Prenatal diagnosis and molecular characterization of two constitutional rings derived from one chromosome 22.
      Am J Med Genet A. 2011 Feb;155A(2):430-3.
1110. Mahajan S, Kaur A, Singh J.
      Ring chromosome 22: a review of the literature and first report from India.
      Balkan J Med Genet. 2012 Jun;15(1):55-9.
1111. Zirn B, Arning L, Bartels I, Shoukier M, Hoffjan S, Neubauer B, Hahn A.
      Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.
      Clin Genet. 2012 Jan;81(1):82-7. 
1112. Canonero I, Montes C, Sturich A, Boterón M, Asinari M, Cuestas E, Rossi N.
      Síndrome de Phelan McDermid: descripción de cinco pacientes e informe del primer caso descripto en gemelas siamesas [Phelan McDermid Syndrome: five patients description and report on the first case described in conjoined twins].
      Arch Argent Pediatr. 2012 May-Jun;110(3):e50-4. Spanish.
      
1113. Sha YW, Ding L, Song YQ, Ge YS, Zeng H, Li P.
      [Ring 22 chromosome syndrome induced azoospermia: a case report and literature review].
      Zhonghua Nan Ke Xue. 2012 Dec;18(12):1111-4. Chinese.
      
1114. Pan L, Sun YL, Xu CM.
      [Ring chromosome 22 in a case].
      Zhonghua Er Ke Za Zhi. 2013 Apr;51(4):308-9. Chinese.
1115. Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, Frank Y, Wang AT, Cai G, Parkhomenko E, Halpern D, Grodberg D, Angarita B, Willner JP, Yang A, Canitano R, Chaplin W, Betancur C, Buxbaum JD.
      Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
      Mol Autism. 2013 Jun 11;4(1):18.
      
1116. Hannachi H, Mougou S, Benabdallah I, Soayh N, Kahloul N, Gaddour N, Le Lorc'h M, Sanlaville D, El Ghezal H, Saad A.
      Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients.
      Cytogenet Genome Res. 2013;140(1):1-11.
      
1117. Liou B, Su CF, Luo CH, Tsai HJ.
      Prenatal diagnosis of complete ring chromosome 22 without phenotypical abnormalities.
      Taiwan J Obstet Gynecol. 2014 Sep;53(3):406-8. 
1118. Cho EH, Park JB, Kim JK.
      Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22.
      Korean J Pediatr. 2014 Jul;57(7):333-6. 
1119. Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC, Phelan K, DuPont BR.
      Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.
      Hum Genet. 2014 Jul;133(7):847-59.
      
1120. Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA, Brunoni D, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Steiner CE, Melaragno MI.
      Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
      Am J Med Genet A. 2014 Jul;164A(7):1659-65.
      
1121. Peng Y, Tang G, Zhang R, Zhang Y, Xia Y, Ma R, Guo R, Wu L.
      [Genetic diagnosis and analysis for two cases of ring chromosome 22].
      Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):494-7. Chinese.
      
1122. Byers HM, Adam MP, LaCroix A, Leary SE, Cole B, Dobyns WB, Mefford HC.
      Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
      Am J Med Genet A. 2017 Jan;173(1):245-249. 
1123. Lyons-Warren AM, Cheung SW, Holder JL Jr.
      Clinical reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.
      Neurology. 2017 Oct 24;89(17):e205-e209.
      
1124. Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.
      A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
      NPJ Genom Med. 2017 Oct 23;2:32. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.
      
1125. Kashevarova AA, Belyaeva EO, Nikonov AM, Plotnikova OV, Skryabin NA, Nikitina TV, Vasilyev SA, Yakovleva YS, Babushkina NP, Tolmacheva EN, Lopatkina ME, Savchenko RR, Nazarenko LP, Lebedev IN.
      Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
      Mol Cytogenet. 2018 Apr 27;11:26.
      
1126. Nikitina TV, Menzorov AG, Kashevarova AA, Gridina MM, Khabarova AA, Yakovleva YS, Lopatkina ME, Kizilova EA, Vasilyev SA, Serov OL, Lebedev IN.
      Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22.
      Stem Cell Res. 2018 Aug;31:244-248.
1127. Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC.
      Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
      J Med Genet. 2018 Apr;55(4):269-277. 
1128. Capkova P, Srovnal J, Capkova Z, Staffova K, Becvarova V, Trkova M, Adamova K, Santava A, Curtisova V, Hajduch M, Prochazka M.
      MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
      PeerJ. 2019 Jan 9;6:e6183. 
1129. Sizer E, Yuksel T, Oral D.
      Coexistence of autism and ring chromosome 22.
      East J Med. 2019; 24(4):554-557.
      
1130. Kong J, Zhang B, Ge L, Song Y.
      [Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion].
      Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):175-177. Chinese.
1131. Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L.
      Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
      Eur J Med Genet. 2020 Nov;63(11):104042.
      
1132. Nussbaum PE, Patel PD, Nussbaum LA, Hilton CW, Nussbaum ES.
      Bilateral vestibular schwannomas in a patient with ring chromosome 22: Case report and review of the literature.
      Pediatr Neurosurg. 2021;56(1):56-60.
1133. Crocco M, Panciroli M, Milanaccio C, Morerio C, Verrico A, Garrè ML, Di Iorgi N, Capra V.
      Case Report: The emerging role of ring chromosome 22 in Phelan-McDermid syndrome with atypical teratoid/rhabdoid tumor: The first child treated with growth hormone.
      Front Neurol. 2021 Oct 29;12:741062.
      
1134. Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group.
      Variability in Phelan-McDermid syndrome in a cohort of 210 individuals.
      Front Genet. 2022 Apr 12;13:652454.
      
1135. Yamashita H, Arakawa Y, Terada Y, Takeuchi Y, Mineharu Y, Sumiyoshi S, Tokunaga S, Nakajima K, Kawabata N, Tanaka K, Tanji M, Umeda K, Minamiguchi S, Ogawa S, Haga H, Takita J, Miyamoto S.
      Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.
      Brain Tumor Pathol. 2022 Oct;39(4):232-239.
1136. Khalifa Y, Hassan HY, Weise A, Liehr T, Alkhayyat H.
      Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report.
      Mol Cytogenet. 2022 Dec 17;15(1):52.
      
1137. Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium; Evans DG, van Ravenswaaij-Arts CMA, Kant SG.
      Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
      Eur J Med Genet. 2023 Jul;66(7):104773.
1138. Lee JC, Tran QT, McGee RB, Perrino MR, Upadhyaya SA, Hanzlik EM, Pytel N, Carroll AJ, Orisme W, Eldomery M, Wang L, Blackburn PR, Furtado LV, Viaene AN, Luo M, Kalish JM, Pinto SN, Bag AK, Orr BA.
      Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.
      Neuropathol Appl Neurobiol. 2024 Apr;50(2):e12971.
1139. Asta L, Ricciardello A, Cucinotta F, Turriziani L, Boncoddo M, Bellomo F, Angelini J, Gnazzo M, Scandolo G, Pisanò G, Pelagatti F, Chehbani F, Camia M, Persico AM.
      Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.
      J Neurodev Disord. 2024 Oct 3;16(1):57.
      
1140. Rowley J, Muldal S, Lindsten J, Gilbert CW.
      H3-Thymidine uptake by a ring X chromosome in a human female
      Proc Natl Acad Sci U S A. 1964 May;51(5):779-86.
1141. Bain AD, Gauld IK, Farquhar JW.
      A ring X chromosome in dwarfism.
      Lancet. 1965 Apr 10;1(7389):820.
1142. Lüers T, Struck E, Nevinny-Stickel J.
      Self-perpetuating ring chromosome in gonadal dysgenesis.
      The Lancet. 1963; 282(7313):887.
1143. Lindsten J, Tillinger KG.
      Self-perpetuating ring chromosome in a patient with gonadal dysgenesis.
      The Lancet. 1962; 279(7229):593-594.
1144. Bishop AM, Blank CE, Simpson K, Dewhurst CJ.
      An XO-X ring X chromosome mosaicism in an individual with normal secondary sexual development.
      J Med Genet. 1966 Jun;3(2):129-33.
1145. Paolini P, Berger R, Rethoré MO, Lafourcade J, Lejeune J.
      Sur un cas de chromosome X en anneau [On a case of an X chromosome in a ring].
      Ann Genet. 1966 Jun;9(2):78-9. French.
1146. Deminatti M, Maillard E, Fossati P, Bulteel MF.
      A propos d'un cas de chromosome X en anneau [Apropos of a cas of ring chromosome X].
      Ann Genet. 1968 Mar;11(1):56-8. French.
1147. Dallapiccola B, Zanardi F.
      Sindrome di Turner da cromosoma X ad anello [Turner's syndrome with ring X chromosome].
      Rass Neurol Veg. 1969;23(5):243-55. Italian.
1148. Luciani JM, Arroyo H, Carlon N, Aubert L, Stahl A.
      Syndrome de Turner avec chromosome X en anneau [Turner's syndrome with ring-shaped x chromosome].
      Sem Hop. 1971 Dec 20;47(52):2977-86. French.
1149. Biéder J, Choisel G, Choisel-Hodicq D.
      Chromosome X en anneau [X ring chromosome].
      Ann Med Psychol (Paris). 1972 Sep-Oct;2(3):402-9. French.
1150. Neuschatz J, Necheles TF.
      Hemophilia B in a phenotypically normal girl with XX (ring) XO mosaicism.
      Acta Haematol. 1973;49(2):108-13.
1151. Tanaka K, Otsuka Y, Fujii S, Morii H, Wada M, Fujita H.
      A case report of Turner's syndrome with ring X chromosome.
      Endocrinol Jpn. 1975 Apr;22(2):169-74.
1152. Hagemeijer A, Hoovers J, Hasper-Voogt I, Von Ruhe-Zurcher T, Bootsma D.
      Late-replicating ring X-chromosomes identified by R-banding after BrdU pulse. Three new examples of mosaicism 45, XO/46, Xr(X).
      Hum Genet. 1976 Sep 10;34(1):45-52.
1153. Dallapiccola B, Bruni L, Boscherini B, Pasquino AM, Chessa L, Vignetti P.
      Segregation of an X ring chromosome in two generations.
      J Med Genet. 1980 Aug;17(4):306-8.
      
1154. Gilgenkrantz S, Briquel ME, Mandel JL, Oberle I.
      A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes.
      Hum Genet. 1986 Feb;72(2):157-9.
1155. Donti E, Nicoletti I, Venti G, Filipponi P, Gerli R, Spinozzi F, Cernetti C, Rambotti P.
      X-ring Turner's syndrome with combined immunodeficiency and selective gonadotropin defect.
      J Endocrinol Invest. 1989 Apr;12(4):257-63.
1156. Ogata T, Matsuo N, Shimizu N.
      A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male.
      Am J Med Genet. 1990 Feb;35(2):241-4.
      
1157. Kleczkowska A, Dmoch E, Kubien E, Fryns JP, Van den Berghe H.
      Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989.
      Genet Couns. 1990;1(3-4):227-33.
1158. Mornet E, Bogyo A, Deluchat C, Simon-Bouy B, Mathieu M, Thépot F, Grisard MC, Leguern E, Boué J, Boué A.
      Molecular analysis of a ring chromosome X in a family with fragile X syndrome.
      Hum Genet. 1993 Oct;92(4):373-8.
1159. Uehara S, Nata M, Obara Y, Niinuma T, Funato T, Yajima A.
      A Turner syndrome woman with a ring X chromosome [45,X/46,X,r(X)(p22.3q27)] whose child also had a ring X chromosome.
      Fertil Steril. 1997 Mar;67(3):576-9.
1160. Matsuo M, Muroya K, Nanao K, Hasegawa Y, Terasaki H, Kosaki K, Ogata T.
      Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns.
      Am J Med Genet. 2000 Apr 10;91(4):267-72.
1161. Dennis N, Coppin B, Turner C, Skuse D, Jacobs P.
      A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes.
      Ann Hum Genet. 2000 Jul;64(Pt 4):277-93.
1162. Ellison JW, Tekin M, Sikes KS, Yankowitz J, Shapiro L, Rappold GA, Neely KE.
      Molecular characterization of a ring X chromosome in a male with short stature.
      Hum Genet. 2002 Apr;110(4):322-6.
1163. Gutiérrez-Angulo M, Lazalde B, Vasquez AI, Leal C, Corral E, Rivera H.
      del(X)(p22.1)/r(X)(p22.1q28) Dynamic mosaicism in a Turner syndrome patient.
      Ann Genet. 2002 Jan-Mar;45(1):17-20.
1164. Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T.
      Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.
      Am J Med Genet A. 2005 Aug 15;137(1):72-6.
1165. Lee KA, Han SH, Choi JR, Chung JS, Choi YC.
      Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion.
      Pediatr Neurol. 2008 Aug;39(2):129-32.
1166. Elghezal H, Alfayez K, Ben Abdallah I, Alfares A, Almazyad A, Al Jasser A, Almobadel N, Alsuhaibani O, Alhashem A.
      Hypospadias in ring X syndrome.
      Eur J Med Genet. 2021 Jul;64(7):104225.
      
1167. Chandley AC, Edmond P.
      Meiotic studies on a subfertile patient with a ring Y chromosome.
      Cytogenetics. 1971;10(4):295-304.
1168. German J, Simpson JL, McLemore GA Jr.
      Abnormalities of human sex chromosomes. I. A ring Y without mosaiciam.
      Ann Genet. 1973 Dec;16(4):225-31.
      
1169. Bühler EM, Tsuchimoto T, Bühler UK, Stalder GR.
      Eine seltene Strukturanomalie des Y-chromosoms: ring-Y [A rare structural anomaly of the Y chromosome: Y ring (author's transl)].
      Arch Genet (Zur). 1974;47(1):52-9. German.
1170. László J, Gaál M, Bósze P.
      Nonmosaic 46,X,r(Y) karyotype with female phenotype.
      Hum Genet. 1977 Oct 14;38(3):351-6.
1171. Taillemite JL, van den Akker J, Portnoi MF, Le Porrier N, Marmor D, Bouillie J, Roux C.
      A case of ring Y chromosome.
      Hum Genet. 1978 May 16;42(1):89-91.
1172. Mićić M, Mićić S, Babić M, Diklić V.
      Phenotype of two males with abnormal Y chromosomes.
      Clin Genet. 1990 May;37(5):321-6.
1173. Maeda T, Ohno M, Matsunobu A, Yoshihara K, Yabe N.
      A cytogenetic survey of 14,835 consecutive liveborns.
      Jinrui Idengaku Zasshi. 1991 Mar;36(1):117-29.
1174. Yoshida A, Miura K, Shirai M.
      Cytogenetic survey of 1,007 infertile males.
      Urol Int. 1997;58(3):166-76.
1175. Arnedo N, Nogués C, Bosch M, Templado C.
      Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation.
      Hum Reprod. 2005 Feb;20(2):462-8.
1176. Bertini V, Canale D, Bicocchi MP, Simi P, Valetto A.
      Mosaic ring Y chromosome in two normal healthy men with azoospermia.
      Fertil Steril. 2005 Dec;84(6):1744.
      
1177. DesGroseilliers M, Fortin F, Lafrenière AM, Brochu P, Lemyre E, Lemieux N.
      Dynamic increase of a 45,X cell line in a patient with multicentric ring Y chromosomes.
      Cytogenet Genome Res. 2006;115(1):90-3.
1178. Carvalho FM, Wolfgramm EV, Degasperi I, Verbeno BM, Vianna BA, Chagas FF, Perroni AM, Paula F, Louro ID.
      Molecular cytogenetic analysis of a ring-Y infertile male patient.
      Genet Mol Res. 2007 Mar 9;6(1):59-66.
1179. Spinner NB, Saitta SC, Delaney DP, Colliton R, Zderic SA, Ruchelli E, Zackai E, Kolon TF.
      Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.
      Am J Med Genet A. 2008 Jul 15;146A(14):1828-31.
1180. Layman LC, Tho SP, Clark AD, Kulharya A, McDonough PG.
      Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes.
      Fertil Steril. 2009 Mar;91(3):791-7.
1181. Chen X, Raca G, Laffin J, Babaian KN, Williams DH.
      Chromosomal abnormalities in 2 cases of testicular failure.
      J Androl. 2011 May-Jun;32(3):226-31.
1182. Li P, Dupont B, Hu Q, Crimi M, Shen Y, Lebedev I, Liehr T.
      The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.
      HGG Adv. 2022 Sep 10;3(4):100139.
      
1183. Kim T, Bershteyn M, Wynshaw-Boris A.
      Chromosome therapy. Correction of large chromosomal aberrations by inducing ring chromosomes in induced pluripotent stem cells (iPSCs).
      Nucleus. 2014 Sep-Oct;5(5):391-5.
      
1184. Pristyazhnyuk IE, Menzorov AG.
      Ring chromosomes: from formation to clinical potential.
      Protoplasma. 2018 Mar;255(2):439-449.
      
1185. Kim T, Plona K, Wynshaw-Boris A.
      A novel system for correcting large-scale chromosomal aberrations: ring chromosome correction via reprogramming into induced pluripotent stem cell (iPSC).
      Chromosoma. 2017 Aug;126(4):457-463.
      
1186. Bershteyn M, Hayashi Y, Desachy G, Hsiao EC, Sami S, Tsang KM, Weiss LA, Kriegstein AR, Yamanaka S, Wynshaw-Boris A.
      Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells.
      Nature. 2014 Mar 6;507(7490):99-103.
      
1187. Plona K, Kim T, Halloran K, Wynshaw-Boris A.
      Chromosome therapy: Potential strategies for the correction of severe chromosome aberrations.
      Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):422-430.
      
1188. Jung K, Shin KS, Son BR, Park HS.
      The discordance between G-banding karyotyping and microarray in structural abnormality.
      Clin Lab. 2023 Dec 1;69(12).
      
1189. Rivera-Angles MM, Gómez-Valencia L, Morales-Hernández A, Briceno-González MdlM, Toledo-Ocampo E, Cornelio-García RM.
      Cromosoma 2 en anillo, en una niña con talla baja y dismorfismo facial.
      SALUD EN TABASCO. 2010; 16(2y3):939-943.
      
1190. Arrieta García R, Pimentel Benítez H, Escobar Casas R, Medina Ali FE.
      Cromosoma 9 en Anillo. Correlación Cariotipo – Fenotipo.
      Ciencias Holguín. 2009; 15(3):1-9.
      
1191. Suárez Ayala VD, del Castillo G, Velasco Y.
      Cromosoma 13 en anillo, reporte de caso / Ring chromosome 13, case report.
      Pediatría. 2016; 49(1):31-35.
      
1192. Aparicio Rodríguez JM.
      Aberraciones cromosómicas en un hospital pediátrico de tercer nivel. Anillos de los cromosomas 13 y 18.
      Revista Iberoamericana de las Ciencias de la Salud. 2013;2(3) 
      
1193. Guirola L, Estrada P, Loureiro M, Linarez J.
      Síndrome del anillo del cromosoma 18. Reporte de un caso y revisión de la literatura.
      Boletín Médico de Postgrado. 2018; 34(1):19-25.
      
1194. Díaz GM, Bautista TMT, Arenas DSMC, Leyva GN.
      Hallazgo de «mosaicismo dinámico» en una paciente femenina con cromosoma 18 en anillo.
      nvestigación en Discapacidad 2014; 3(4):185-189.
      
1195. Ascurra M, Rodrigue S, Herreros M, Torres E.
      Cromosoma 20 en anillo en gemelas monocigotas.
      Pediatría (Asunción). 2008; 35(2):101-105.
      
1196. García-Ezquiaga J, Carrasco-Marina ML, de Bustamante AD, Darnaude-Ortiz MT.
      Cromosoma 20 en anillo. Un reto diagnóstico.
      Neurología Argentina. 2022; 14(4):251-255.
      
1197. Coulter-Mackie MB, Rip J, Ludman MD, Beis J, Cole DE.
      Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.
      J Med Genet. 1995 Oct;32(10):787-91.
      
1198. Mello de Oliveira B, Eberle Sehbe M, Correa Costa E, Giacomini CB, Riegel M, César J. Leite L.
      Investigação neonatal de distúrbio de diferenciação sexual e restrição de crescimento conduz a diagnóstico  familiar de raro cromossomo em anel.
      HCPA Abstract eP2028 of 37ª SEMANA CIENTÍFICA DO HOSPITAL DE CLÍNICAS DE PORTO ALEGRE Clinical and biomedical research. 2017
      
1199. Pinto Escalante D, Ceballos Quintal JM, Castillo Zapata I, Canto Herrera J.
      Síndrome del anillo en una paciente con mosaico del cromosoma 4 en anillo / Ring syndrome in a patient with a mosaic ring 4 chromosome.
      Bol méd Hosp Infant Méx. 2001; 58(8):532-536.
      
1200. da Silva Franceschi MF, Dorfman LE, Zandoná DI, Félix TM, Faller MS, Trombetta GB, Jaeger JP, Arruda LCF, Chula FGL, Borba JB, Maluf SW.
      Mosaicismo dinâmico: anel do cromossomo 4/monossomia 4 em paciente com baixa estatura e microcefalia.
      Salão de iniciação Científica (15.: 2003: Porto Alegre, RS). Livro de resumos. Porto Alegre: UFRGS, 2003.
1201. Proaño A, Leone PA, Sánchez ME, Verdezoto SD, García JL, Hernández JM, Paz-y-Miño C.
      Caracterización citogenética y molecular de una paciente ecuatoriana con cromosoma 4 en anillo: análisis clínico comparativo con 37 casos internacionales.
      Rev Med Vozandes. 2014; 25(1-2):7-22.
      
1202. Dávila-Aliaga CR, Del-Castillo-Bao SB, Guillén-Zambrano R, Angulo-Ramirez L.
      Características fenotípicas de paciente con cromosoma 7 en anillo.
      Revista Peruana De Investigación Materno Perinatal. 2019; 8(4):62-66.
1203. Cepeda GJR, Ambriz LR, De la Fuente CBE, De la Rosa ARM, Arteaga AMG, González DZ, Carmona MJG.
      Diagnóstico prenatal ecográfico y citogenético de anomalía en anillo del cromosoma 13.
      Pediatr Mex. 2005; 8(3):10-13.
      
1204. da Silva-Grecco RL, Palhares HMC, Da Silva Lopes VLG, Spadotto Balarin MA.
      Quadro polimalformativo com cariotipo 46,XY,r(13): Relato de caso.
      Rev Med Minas Gerais 2006; 16(4): 216-8.
      
1205. Inderadjaja J, Logghe H, Boone B, D’Haese J, Decaluwe W, Casaer A, Mendten B, Cornette L.
      Dandy-walkermalformatie en ringchromosoom 13: een zeldzame associatie.
      Tijdschr voor Geneeskunde. 2008: 64(24):1250-1255.
      
1206. Aspillaga MH, Torrente MA, Avendaño IB.
      Cromosoma 14 en anillo.
      Rev Chil Pediatr. 1994; 65(2:117-120.
      
1207. Amilachwari M, de Vargas EF, Sánchez PM, Regalado de Amilachwari ME, Pérez S.
      Cromosoma 15 en anillo. Presentación de un caso clínico yrevisión de la literature.
      Gac Méd Caracas. 1992;100(2):137-141.
      
1208. Schleiffer Buoniconti C, Rezende LV, Arruda JO, de Oliveira Vieira Silva I, Mendoza LVG, Cheng I.
      Relato de caso: síndrome do cromossomo 15 em anel e atresia de esôfago.
      Resid Pediatr. 2021;11(3):1-3.
      
1209. Souza RC, Andia-Merlin RY, Allegretti CE, Scabar LF, Giovani EM.
      Manifestaciones orales del síndrome del cromosoma 18 en anillo.
      Rev Estomatol Herediana. 2014; 24(2):108-12.
      
1210. del Valle-Reyes VY, Hernández-García M, Villa-Colín FG, Gonzalo-Ugarte AR, Juárez Duarte ES, Mantilla-Capacho JM.
      Tratamiento rehabilitatorio en un paciente con síndrome del anillo del cromosoma 22.
      Rev Mex Med Fis Rehab. 2024; 36(1-4):25-34.
1211. Torres L, Suarez A, Gutierrez LD, Rubio C, Muskus M.
      Cromosoma 22 en anillo: reporte de un caso en el Hospital de San José.
      Iatreia [Internet]. 16 de noviembre de 2010 [citado 17 de abril de 2025];23(4-S):S-54.
      
1212. García Gómez D, Soriano Torres M, Santos Merencio L, Collazo Mesa T, Barrios Martínez A, Morales Rodríguez E, Gamboa OM, López AC, Peralta EM, Cruz AL, García AG, Méndez Rosado LA. 
      Aberraciones cromosómicas en pacientes con sospecha de Síndrome Prader Willi.
      Sal. Cienc. Tec. Serie Conf. 2023; 2(3):250.
1213. Borovik CL, Muller R, Demarchi AL, Topczewski A, Hidal LBT, Santos E, Addesso VRG, Strachman Bacal N, Wood Faulhaber MH, Abramovici S.
      Caracterização de um cromossomo 22 em anel por citogen tica molecular.
      Einsein. 2003; 1:113-6.
1214. Batista CFL, Orellana Santos BA, dos Santos GG, Ciuccio GTB, Gerardi Filho VA.
      Associação entre refluxo vesicoureteral e anomalia do cromossomo 22 em anel - relato de caso.
      Resid Pediatr. 2023;13(4):1-3.
      
1215. de Arruda LCF, Saikoski Faller M, Vasques FR, Benvenuti Trombetta G, Gallas Duarte HQ, Severiano Dias M, Doederlein Schwartz IV, Lenara Roth F, Maluf SW.
      Cromossomo X em anel em paciente masculino com displasia esquelética.
      Salão de iniciação Científica (17.: 2005: Porto Alegre, RS). Livro de resumos. Porto Alegre: UFRGS, 2005.
1216. Soto-Alvarez MI, Moche-Loeri JA, de Santamaría ROS, Barriuso-Pérez E.
      Cromosoma 20 en anillo, hipersensibilidad al valproato y encefalopatía hiperamonémica.
      Revista de Neurología. 2003; 37(8):733-735.
      
1217. Lahoz CH, Acero IH, Salas Puig J, Delgado MG, Puerta SC.
      Cromosoma 20 en anillo: un síndrome identificable por las características electroclínicas.
      Neurología: Publicación oficial de la Sociedad Española de Neurología 2004, 19(4);215-219.
      
1218. D’Odorico L, Giovannini S, Majorano M, Martinelli M, Zampini L.
      Competencias lingüísticas en niños de lengua italiana con aberraciones del cromosoma 14 / Linguistic skills in Italian children with chromosome 14 aberrations.
      Psiquiatría de la infancia y la adolescencia. 2011; 78:449-456.
      
1219. Gil JV, Avetisyan G, de Las Heras S, Miralles A, Del Cañizo M, Rico Á, Valerio ME, Díaz V, Piñero P, Orellana C, Cervera J, Fuentes C, Fernández JM, Barragán E, Such E, Llop M.
      Atypical B-cell acute lymphoblastic leukemia with iAMP21 in the context of constitutional ring chromosome 21: A case report and review of the genetic insights.
      Int J Mol Sci. 2025 Jan 3;26(1):357.
      
1220. da Nóbrega VA, Rodrigues dos Santos G, Melaragno MI, Maia RE.
      Clinical characterization and cytogenetic-molecular study of a patient with a ring chromosome 12.
      Mol Syndromol, 2025, in press
1221. Tokumoto K, Nishida T, Ikeda H, Ikeda H, Kawaguchi N, Mizutani S, Yamaguchi T, Ohtani H, Yamazaki E, Usui N, Imai K, Inoue Y.
      Long-term seizure and psychosocial outcomes of patients with ring chromosome 20 syndrome: A cohort study of 47 cases.
      Epilepsia. 2025 Mar 22. doi: 10.1111/epi.18370. Epub ahead of print. PMID: 40119828.
1222. Shams RB, Nieman EL, Perilla-Young Y, Morrell DS, Hildebrandt C.
      TYMS-ENOSF1 dyskeratosis congenita in a patient with ring chromosome 18: A case report.
      Am J Med Genet A. 2025 Apr 10:e64081. doi: 10.1002/ajmg.a.64081. Epub ahead of print. PMID: 40207375.
1223. Montanari A, Caforio P, Paparella A, Casieri P, Nuzzi MC, Antonucci MF, Catacchio CR, Tampoia M, Gentile M, Bucci R, Cecinati V, Cellamare A, Antonacci F.
      Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications.
      Mol Cytogenet. 2024 Dec 5;17(1):31.
      
1224. Laalaoua Y, Bentebbaa F, Assarrar I, Bouichrat N, Rouf S, Latrech H.
      Association of ring chromosome 18 and Prader-Willi syndrome: the first described case report.
      Pediatric Endocrinology Diabetes and Metabolism. 2025;31(1):35-40.
      
1225. Chen H, Jing P, Yamg S, Lei L, Li X.
      Prenatal diagnosis of a rare case of complete ring chromosome 15 / 中华围产医学杂志
      Chinese Journal of Perinatal Medicine. 2024; 12:74-77.
1226. Gardner JA, Haslett N, Giguere HG, Anderson KJ.
      Ring chromosome 14 with a terminal 14q32.33 deletion.
      J Assoc Genet Technol. 2024;50(2):69-73.
      
1227. Nelson C, Wick M.
      P811: Prenatally diagnosed ring chromosome 18: A case report.
      Genetics in Medicine Open 2024, 2(S1): 101719.
1228. Lrhirha A, Sebbah S, Hliwa W, Boukhal Z, El Rhaoussi FZ, Tahiri M, Haddad F, Bellabah A Badre W.
      Ring chromosome 21 associated with Crohn's disease: A case report.
      Gut & Liver. 2024; 18:21.
1229. Bi X, Iglesias A, Levy B, Aggarwal V.
      P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay.
      Genetics in Medicine Open. 2024; 2(S1): 101606.
1230. Chen CP.
      Detection of mosaic ring chromosome 12 or 46,XY,r(12) (p13.3q24.33)/46, XY in a 37-year-old male associated with oligospermia but no other apparently phenotypic abnormalities.
      Taiwan J Obstet Gynecol. 2024 Jul;63(4):581-583.
      
1231. Gezegen H, Kaya İİ, Kalaycı T, Şirin NG, Karaman B, Bebek N, Baykan B.
      Seeing clowns with a ring 20 chromosome.
      Arch Epilepsy 2024;30(1):31-35.
1232. Haines K, Hazard D, Carstens B, Trevisan P, Brzeskiewicz P, Gilfillan T,  Nijmeh H, Fernandez AC, Perez-Gill C, Stoecker M, Kochhar A, Haag, M.
      P743: Uncovering hidden complex structural mechanisms: Conventional karyotype as a complement to chromosomal microarray.
      Genetics in Medicine Open. 2024; 2:101647.
1233. Maharjan KK, Singhal P, Kamath V, Oommen SP, Mathai S, Mathews J,  Kuruvila KA, Danda S, Srivastava V M.
      The spectrum of cytogenetics and clinical profile in Robertsonian translocations: An experience of two decades from tertiary referral center in India.
      Medical Journal Armed Forces India. 2024; in press
1234. Tanimoto K, Kido T, Maeda K, Uda Y, Watanabe T, Taira M, Ueno T, Miyagawa, S.
      Bioprosthetic aortic valve replacement with aortic annular enlargement in a young woman with congenital aortic stenosis and intellectual disability.
      Journal of Pediatric Cardiology and Cardiac Surgery, 24-009.
1235. McCoy MD, Sarasua SM, DeLuca JM, Davis S, Rogers RC, Phelan K, Boccuto L.
      Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.
      Pediatr Nephrol. 2024 Mar;39(3):749-760.
      
1236. Alsubhi, S.
      Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
      Canadian Journal of Neurological Sciences. 2024; 51(S1), S7-S7.
1237. Landlust AM, Koza SA, Carbin M, Walinga M, Robert S, Cooke J, Vyshka K; European Phelan-McDermid syndrome consortium; van Balkom IDC, van Ravenswaaij-Arts C.
      Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.
      Eur J Med Genet. 2023 Jul;66(7):104771.
      
1238. Vlachadis N, Papadopoulou T, Vrachnis D, Manolakos E, Loukas N, Christopoulos P, Pappa K, Vrachnis N.
      Incidence and types of chromosomal abnormalities in first trimester spontaneous miscarriages: a Greek single-center prospective study.
      Maedica (Bucur). 2023 Mar;18(1):35-41.
      
1239. Wirrell EC, Lagae L, Scheffer IE, Cross JH, Specchio N, Strzelczyk A.
      Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox-Gastaut syndrome in clinical practice.
      Epilepsia Open. 2024 Oct;9(5):1643-1657.
      
1240. Madison A, Applegate C, Stinnett V, Miranda DM, Cross C, Vaught KC, Zou YS, Murry JB.
      Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution.
      Sci Rep. 2025 Apr 14;15(1):12836.
      
1241. Chorin O, Greenbaum L, Lev-Hochberg S, Feinstein-Goren N, Eliyahu A, Shani H, Pras E, Weissbach T, Bolkier Y, Heimer G, Lev D, Michelson M, Regev M, Josefsberg S, Batzir NA, Shalata A, Spiegel R, Segel R, Lobel O, Abu-Libdeh B, Shohat M, Frydman M, Hady-Cohen R, Pode-Shakked B, Rein-Rothschild A.
      Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
      Orphanet J Rare Dis. 2025 Mar 18;20(1):132.
      

Pizzo L, Rudd MK. Structural Variation Interpretation in the Genome Sequencing Era: Lessons from Cytogenetics. Clin Chem. 2025 Jan 3;71(1):119-128.