ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #22 -                                                              

      0. Liehr et al. unpublished data
  1. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, Von Eggeling F, Liehr T.
    Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
    Hum Genet. 2003 Dec;114(1):51-67.
  2. von Eggeling F, Langer S, Hoppe C, Liehr T, Weise A, Lederer G, Kotzot D.
    Presumed mutation in a microsatellite marker mimicking segmental uniparental disomy in a case of a small supernumerary marker chromosome detected at prenatal diagnosis.
    Clin Genet. 2003 Aug;64(2):168-171.
  3. Liehr T, Claussen U.
    Recent developments in human molecular cytogenetic techniques.
    Curr Mol Med. 2002 May;2(3):283-297.
  4. Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F.
    Centromere-specific  multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis.
    In: Early prenatal diagnosis, fetal cells and DNA in the mother - present state and perpectives.
    The Karolinum Press, Prag, 2002, pp 293-300, ISBN: 80-246-0397-7.
  5. Tung G, Covert SM, Malabed KL, Wohlferd MM, Beckerman KP, Goldberg JD, Cotter PD.
    Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome.
    Am J Med Genet. 2001 Oct 15;103(3):193-197.
  6. Bartels I, Schlueter G, Liehr T, Von Eggeling F, Starke H, Glaubitz R, Burfeind P.
    Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation.
    Cytogenet Genome Res., 2003;101(2):103-105.
  7. Liehr T, Pfeiffer RA, Trautmann U.
    Typical and partial cat eye syndrome: identification of the marker chromosome by FISH.
    Clin Genet. 1992 Aug;42(2):91-96.
  8. Pfeiffer RA, Heimann K, Heiming E, Schlack H, Maul H,
    Kolobom und Analatresie: Phänotyp einer Chromosomenaberration?
    Klin Monatsbl Augenheilk 1971, 159: 357-367.
  9. Johnson LD, Harris RC, Henderson AS.
    Ribosomal DNA sites in a metacentric chromosome fragment.
    Humangenetik. 1974;21(3):217-219.
  10. Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA.
    The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.
    Hum Genet. 1981;57(2):148-158.
  11. Verma RS, Babu KA, Rosenfeld W, Jhaveri RC.
    Marker chromosome in cat eye syndrome.
    Clin Genet. 1985 May;27(5):526-528.
  12. Duncan AM, Rosenfeld W, Verma RS.
    Re-evaluation of the supernumerary chromosome in an individual with cat eye syndrome.
    Am J Med Genet. 1987 May;27(1):225-227.
  13. Lüleci G, Bagci G, Kivran M, Lüleci E, Bektas S, Basaran S.
    A hereditary bisatellite-dicentric supernumerary chromosome in a case of cat-eye syndrome.
    Hereditas. 1989;111(1):7-10.
  14. Reiss JA, Weleber RG, Brown MG, Bangs CD, Lovrien EW, Magenis RE.
    Tandem duplication of proximal 22q: a cause of cat-eye syndrome.
    Am J Med Genet. 1985 Jan;20(1):165-171.
  15. Ing PS, Lubinsky MS, Smith SD, Golden E, Sanger WG, Duncan AM.
    Cat-eye syndrome with different marker chromosomes in a mother and daughter.
    Am J Med Genet. 1987 Mar;26(3):621-628.
  16. Rosenfeld W, Verma RS, Jhaveri RC.
    Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.
    Am J Med Genet. 1984 May;18(1):19-24.
  17. Weilong G, Aide Y, Hongbao F, Shumou L, Ju Y.
    Bisatellited dicentric chromosome: a report on a case with karyotype 47,XY, + psu dic(22)t(22;22)(22pter to cen to 22q11::22q11 to 22pter).
    Hum Genet. 1982;61(4):325-328.
  18. Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R.
    Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.
    Am J Med Genet. 1988 Jan;29(1):9-19.
  19. Fryns JP, Eggermont E, Veresen H, Van den Berghe H.
    A newborn with the cat-eye syndrome.
    Humangenetik. 1972;15(3):242-248.
  20. Bühler EM, Mehes K, Müller H, Stalder GR.
    Cat-eye syndrome, a partial trisomy 22.
    Humangenetik. 1972;15(2):150-162.
  21. James RS, Temple IK, Dennis NR, Crolla JA.
    A search for uniparental disomy in carriers of supernumerary marker chromosomes.
    Eur J Hum Genet. 1995;3(1):21-26.
  22. Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjold M.
    Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.
    Prenat Diagn. 1994 Nov;14(11):1019-1028.
  23. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M.
    Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.
    Am J Med Genet. 1995 Jan 2;55(1):85-94.
  24. Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M.
    Identification of marker chromosomes in thirteen patients using FISH probing.
    Am J Med Genet. 1994 Oct 15;53(1):8-18.
  25. Hills LV, Nouri S, Slater HR
    Pericentromeric euchromatin is conserved in minute human supernumerary chromosomes. A study using cross-species colour segmenting (RxFISH).
    Chr Res. 2003 11:359-363.
  26. Verschraegen-Spae MR, van Roy N, de Perdigo A, de Paepe A, Speleman F.
    Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis.
    Prenat Diagn. 1993 May;13(5):385-394.
  27. Langer S, Fauth C, Rocchi M, Murken J, Speicher MR.
    AcroM fluorescent in situ hybridization analyses of marker chromosomes.
    Hum Genet. 2001 Aug;109(2):152-158.
  28. Gravholt CH, Friedrich U.
    Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children.
    Am J Med Genet. 1995 Mar 13;56(1):106-111.
  29. Stetten G, Blakemore KJ, Courter AM, Coss CA, Jabs EW.
    Prenatal identification of small mosaic markers of different chromosomal origins.
    Prenat Diagn. 1992 Feb;12(2):83-91.
  30. McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE.
    Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.
    Cytogenet Cell Genet. 1998;81(3-4):222-228.
  31. Mears AJ, Duncan AM, Budarf ML, Emanuel BS, Sellinger B, Siegel-Bartelt J, Greenberg CR, McDermid HE.
    Molecular characterization of the marker chromosome associated with cat eye syndrome.
    Am J Hum Genet. 1994 Jul;55(1):134-142.
  32. Pierluigi M, Battaglia P, Perfumo C, Baroncini A, Bricarelli FD.
    Combined use of cytogenetic analysis and FISH for the identification of two antenatal de novo markers as Robertsonian translocations involving the p arms.
    Ann Genet. 1997;40(2):99-103.
  33. Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS.
    Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.
    Am J Hum Genet. 1999 Dec;65(6):1595-1607.
  34. Viersbach R, Engels H, Gamerdinger U, Hansmann M.
    Delineation of supernumerary marker chromosomes in 38 patients.
    Am J Med Genet. 1998 Apr 1;76(4):351-358.
  35. Hastings RJ, Nisbet DL, Waters K, Spencer T, Chitty LS.
    Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.
    Prenat Diagn. 1999 May;19(5):436-445.
  36. Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR.
    A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.
    Am J Med Genet. 1997 Nov 12;72(4):440-447.
  37. Crolla JA, Dennis NR, Jacobs PA.
    A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.
    J Med Genet. 1992 Oct;29(10):699-703.
  38. Urioste M, Visedo G, Sanchis A, Sentis C, Villa A, Ludena P, Hortiguela JL, Martinez-Frias ML, Fernandez-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.
  39. Scott K, Delmege C, Stuart G, Tumpenny PT.
    A case of Catecholaminergic Polymorphic Ventricular Tachycardia with additional finding of two supernumerary structurally abnormal chromosomes derived from chromosome 22.
    J Med Genet 2003; 40(Suppl. 1):S32.
  40. Arab S, Chitayat D, Gardner HA, Winsor EJ.
    Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22).
    Clin Genet. 1999 Nov;56(5):362-366.
  41. Wolff DJ, Schwartz S.
    Characterization of Robertsonian translocations by using fluorescence in situ hybridization.
    Am J Hum Genet. 1992 Jan;50(1):174-181.
  42. Kirchhoff M, Rose H, Lundsteen C.
    High resolution comparative genomic hybridisation in clinical cytogenetics.
    J Med Genet. 2001 Nov;38(11):740-744.
  43. Lohmann L, Chelloug N, Rosales B, Guerin C, Lyonnet S, Jonveaux P, Simon-Bouy B.
    Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report.
    Prenat Diagn. 2000 Feb;20(2):156-158.
  44. Rogatto SR, Rainho CA, Zhang ZM, Figueiredo F, Barbieri-Neto J, Georgetto SM, Squire JA.
    Hemangioendothelioma of bone in a patient with a constitutional supernumerary marker.
    Cancer Genet Cytogenet. 1999 Apr;110(1):23-27.
  45. Wolff DJ, Schwartz S.
    Characterization of Robertsonian translocations by using fluorescence in situ hybridization.
    Am J Hum Genet. 1992 Jan;50(1):174-181.
  46. Callen DF, Eyre H, Yip MY, Freemantle J, Haan EA.
    Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes.
    Am J Med Genet. 1992 Jul 1;43(4):709-715.
  47. Tuerlings JH, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, Hoovers JM, Madan K, Van der Blij-Philipsen M, Gerssen-Schoorl KB, Kremer JA, Smeets DF.
    Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.
    Eur J Hum Genet. 1998 May-Jun;6(3):194-200.
  48. Borgaonkar DS, McKusick VA, Farber PA.
    An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat.
    J Med Genet. 1973 Dec;10(4):379-384.
  49. Balci S, Halicioglu C, Say B, Taysi K.
    Case report. The cat-eye syndrome with unusual skeletal malformations.
    Acta Paediatr Scand. 1974 Jul;63(4):623-626.
  50. Carmi R, Abeliovich D, Bar-Ziv J, Karplus M, Cohen MM.
    Malformation syndrome associated with small extra chromosome.
    Am J Med Genet. 1980;5(1):101-107.
  51. Darby CW, Hughes DT.
    Dermatoglyphics and chromosomes in cat-eye syndrome.
    Brit. Med. J. 262: 47-48, 1971.
  52. Ferrandez A, Schmid W.
    [Potter syndrome (kidney agenesis) with chromosome abnormalities in the patient and mosaicism in the father]
    Helv Paediatr Acta. 1971 Jun;26(2):210-214. German.
  53. Franklin RC, Parslow MI.
    The cat-eye syndrome. Review and two further cases occurring in female siblings with normal chromosomes.
    Acta Paediatr Scand. 1972 Sep;61(5):581-586.
  54. Gerald P S, Davis C, Say B, Wilkins J.
    Syndromal association of imperforate anus: the Cat Eye syndrome.
    Birth Defects Orig. Art. Ser. VIII(2): 79-84, 1972.
  55. Ginsberg J, Dignan P, Soukup S.
    Ocular abnormality associated with extra small autosome.
    Am J Ophthalmol. 1968 May;65(5):740-746.
  56. Giraud F, Mattei JF, Hartung M, Mattei MG.
    Petit chromosome submetacentrique surnumeraire et syndrome des yeux de chat.
    Ann Pediatr. (Paris) 1975, 22:449-452.
  57. Jensen PK, Hansen P.
    A bisatellited marker chromosome in an infant with the caudal regression anomalad.
    Clin Genet. 1981 Feb;19(2):126-129.
  58. Krmpotic E, Rosnick MR, Zollar LM.
    Genetic counseling. Secondary nondisjunction in partial trisomy 13.
    Obstet Gynecol. 1971 Mar;37(3):381-390.
  59. Loevy HT, Jayaram BN, Rosenthal IM, Pildes R.
    Partial trisomy 13 associated with cleft lip and cleft palate.
    Cleft Palate J. 1977 Jul;14(3):239-243.
  60. Mahboubi S, Templeton JM Jr.
    Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature.
    Pediatr Radiol. 1984;14(6):441-442.
  61. 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.
  62. Petit P, Godart S, Fryns JP.
    Silver staining of the supernumerary chromosome in the cat-eye syndrome.
    Ann Genet. 1980;23(2):114-116.
  63. Pierson M, Gilgenkrantz S, Saborio M.
    Syndrome dit de l'oeil de chat avec nanisme hypophysaire et developpement mental normal.
    Arch Franc Pediatr. 1975; 32: 835-848.
  64. Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB.
    Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
    Genet Couns. 2001;12(3):273-282.
  65. Schachenmann G, Schmid W, Fraccaro M, Mannani A, Tiepolo L, Perona GP, Sartori E.
    Chromosomes in coloboma and anal atresia.
    Lancet. 1965 Aug 7;19:290.
  66. Toomey KE, Mohandas T, Leisti J, Szalay G, Kaback MM.
    Further delineation of the supernumerary chromosome in the Cat-Eye syndrome.
    Clin Genet. 1977 Nov;12(5):275-284.
  67. Ward J, Sierra IA, D'Croz E.
    Cat eye syndrome associated with aganglionosis of the small and large intestine.
    J Med Genet. 1989 Oct;26(10):647-648.
  68. Weber FM, Dooley RR, Sparkes RS.
    Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case.
    J Pediatr. 1970 Apr;76(4):594-597.
  69. Wenger SL, Surti U, Nwokoro NA, Steele MW.
    Cytogenetic characterization of cat eye syndrome marker chromosome.
    Ann Genet. 1994;37(1):33-36.
  70. Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ.
    Phenotypic variability of Cat-Eye syndrome.
    Genet Couns. 2001;12(1):23-34.
  71. Masukawa H, Ozaki T, Nogimori T.
    Cat eye syndrome with hypogonadotropic hypogonadism.
    Intern Med. 1998 Oct;37(10):853-836.
  72. Hough CA, White BN, Holden JJ.
    Absence of lambda immunoglobulin sequences on the supernumerary chromosome of the "cat eye" syndrome.
    Am J Med Genet. 1995 Sep 11;58(3):277-281.
  73. McDermid HE, Duncan AM, Brasch KR, Holden JJ, Magenis E, Sheehy R, Burn J, Kardon N, Noel B, Schinzel A,  Teshima I, White BN.
    Characterization of the supernumerary chromosome in cat eye syndrome.
    Science. 1986 May 2;232(4750):646-648.
  74. Hoo JJ, Robertson A, Fowlow SB, Bowen P, Lin CC.
    Inverted duplication of 22pter->q11.21 in cat-eye syndrome.
    Am J Med Genet. 1986 Jul;24(3):543-545.
  75. Cullen P, Rodgers CS, Callen DF, Connolly VM, Eyre H, Fells P, Gordon H, Winter RM, Thakker RV.
    Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22.
    Am J Med Genet. 1993 Nov 1;47(6):925-930.
  76. Bulle F, Lespinasse J, Pawlak A, Vadot E, Sastre J, Noel B, Guellaen G.
    Identification of a cat eye syndrome using DNA sequence dosage analysis.
    Ann Genet. 1996;39(3):139-143.
  77. Nicolosi C, Girlanda P, Vita G, Messina C.
    Cat eye syndrome and dystonia.
    Mov Disord. 1996 Jan;11(1):110-111.
  78. Reeser SL, Donnenfeld AE, Miller RC, Sellinger BS, Emanuel BS, Driscoll DA.
    Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization.
    Prenat Diagn. 1994 Nov;14(11):1029-1034.
  79. Bellinghieri G, Triolo O, Stella NC, Gemelli M, Musolino R, Monardo P, Savica V.
    Renal function evaluation in an adult female with cat-eye syndrome.
    Am J Nephrol. 1994;14(1):76-79.
  80. Tupler R, Hoeller A, Pezzolo A, Maraschio P.
    Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.
    Ann Genet. 1994;37(3):153-155.
  81. Bröndum-Nielsen K.
    Extra small marker chromosome associated with normal phenotype due to 3:1 disjunction of t(14;22) in a parent. Implications for the origin of marker chromosomes.
    Clin Genet. 1991 Sep;40(3):215-217
  82. Duncan AM, Hough CA, White BN, McDermid HE.
    Breakpoint localization of the marker chromosome associated with the cat eye syndrome.
    Am J Hum Genet. 1986 Jun;38(6):978-980.
  83. Thomas C, Cordier J, Gilgenkrantz S, Reny A, Raspiller A.
    [An unusual syndrome: colobomatous disorder of the eyeball, anal atresia, multiple congenital anomalies and presence of an extra chromosome]
    Ann Ocul (Paris). 1969 Oct;202(10):1021-1031. French.
  84. Noel B, Quack B.
    Petit metacentric surnumeraire chez un polmalforme.
    J Genet Hum 1970; 18:45-46. French.
  85. Cory CC, Jamison DL.
    The cat eye syndrome.
    Arch Ophthalmol. 1974 Sep;92(3):259-262.
  86. Kunze J, Tolksdorf M, Wiedemann HR.
    [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]
    Humangenetik. 1975;26(4):271-289.
  87. Zellweger H, Mikamo K, Abbo G:
    Two cases of non-mongoloid trisomy G.
    Ann Paediat 1962, 199:613-624.
  88. Taft PD, Dodge PR, Atkins L.
    Mental retardation and multiple congenital anomalies: assiciation with extra small metacentric chromosome.
    Am J Dis Child. 1965 Jun;109:554-557.
  89. Ishmael J, Laurence KM.
    A probable case of incomplete trisomy of a chromosome of the 13-15 group.
    J Med Genet. 1965 Jun;39:136-141.
  90. Curcio S.
    [Malformations of the vagina and rectum associated to chromosomic anomaly (47, XX, ?G+)]
    Arch Ostet Ginecol. 1967 Sep-Oct;72(5):533-539. Italian.
  91. Beyer P, Ruch JV, Rumpler Y, Girard J.
    [Case of a mentally retarded and polymalformed child whose karyotype shows the presence of a small mediocentric extra chromosome]
    Pediatrie. 1968 Jun;23(4):439-442. French.
  92. De Chieri R, Malfatti C, Stanchi F, Albores JM.
    Cat-eye syndrome: evaluation of the extra chromosome with banding techniques. Case report.
    J Genet Hum. 1974 Jun;22(2):101-107.
  93. Kurahashi H, Emanuel BS.
    Long AT-rich palindromes and the constitutional t(11;22) breakpoint.
    Hum Mol Genet. 2001 Nov 1;10(23):2605-2617.
  94. Lin AE, Bernar J, Chin AJ, Sparkes RS, Emanuel BS, Zackai EH.
    Congenital heart disease in supernumerary der(22),t(11;22) syndrome.
    Clin Genet. 1986 Apr;29(4):269-275.
  95. Iselius L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Bottelli AM, Bui TH, Caufin D, Dalpra L, Delendi N, et al.
    The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families.
    Hum Genet. 1983;64(4):343-355.
  96. Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M, Cannizzaro L, Shanske A, Morrow BE.
    Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
    Am J Hum Genet. 1999 Mar;64(3):747-758.
  97. Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE.
    AT-rich palindromes mediate the constitutional t(11;22) translocation.
    Am J Hum Genet. 2001 Jan;68(1):1-13.
  98. Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE.
    A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
    Am J Hum Genet. 1999 Dec;65(6):1608-1616.
  99. Fung J, Munne S, Garcia J, Kim UJ, Weier HU.
    Molecular cloning of translocation breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis.
    Reprod Fertil Dev. 1999;11(1):17-23.
  100. Tapia-Paez I, O'Brien KP, Kost-Alimova M, Sahlen S, Kedra D, Bruder CE, Andersson B, Roe BA, Hu P, Imreh S, Blennow E, Dumanski JP.
    Fine mapping of the constitutional translocation t(11;22)(q23;q11).
    Hum Genet. 2000 May;106(5):506-516.
  101. Lindblom A, Sandelin K, Iselius L, Dumanski J, White I, Nordenskjold M, Larsson C.
    Predisposition for breast cancer in carriers of constitutional translocation 11q;22q.
    Am J Hum Genet. 1994 May;54(5):871-876.
  102. Kurahashi H, Shaikh TH, Zackai EH, Celle L, Driscoll DA, Budarf ML, Emanuel BS.
    Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).
    Am J Hum Genet. 2000 Sep;67(3):763-768.
  103. Hou JW.
    Supernumerary chromosome marker der(22)t(11;22) resulting from a maternal balanced translocation.
    Chang Gung Med J. 2003 Jan;26(1):48-52.
  104. Woo HY, Cho HJ, Kong SY, Kim HJ, Jeon HB, Kim EC, Park H, Kim YJ, Kim SH.
    Marker chromosomes in korean patients: incidence, identification and diagnostic approach.
    J Korean Med Sci. 2003 Dec;18(6):773-778.
  105. Engelen JJ, Tuerlings JH, Albrechts JC, Schrander-Stumpel CT, Hamers AJ, De Die-Smulders CE.
    Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH.
    Genet Couns. 2000;11(1):13-17.
  106. Sasagawa I, Nakada T, Ishigooka M, Tomaru M, Sawamura T, Tateno T.
    Cryptorchidism and marker chromosomes: identification of marker chromosomes by fluorescence in situ hybridization.
    Urol Int. 1995;55(1):25-28.
  107. Sasagawa I, Nakada T, Ishigooka M, Sawamura T, Adachi Y, Hashimoto T.
    Chromosomal anomalies in cryptorchidism.
    Int Urol Nephrol. 1996;28(1):99-102.
  108. Simi P, Ceccarelli M, Barachini A, Floridia G, Zuffardi O.
    The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte.
    Hum Genet. 1992 Feb;88(4):482-483.
  109. Tibiletti MG, Sala E, Colombo D, Arlati S, Varisco T, La Placa G.
    Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities.
    Ann Genet. 1996;39(3):168-172.
  110. Werding N, Holland H, Hueckel D, Froster UG, Hausler HJ, Kiess W.
    Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases.
    Acta Paediatr. 2003 Jul;92(7):865-868.
  111. Dufke et al.
    Chromosomal mosaicism in familial reciprocal translocation carriers. necessity of karyotyping different tissues
    Am J Med Gen 2003; 121A; 292.
  112. Kurahashi H, Emanuel BS.
    Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males.
    Nat Genet. 2001 Oct;29(2):139-140.
  113. Armstrong SJ, Goldman AS, Speed RM, Hulten MA.
    Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation.
    Am J Hum Genet. 2000 Sep;67(3):601-609.
  114. Van Assche E, Staessen C, Vegetti W, Bonduelle M, Vandervorst M, Van Steirteghem A, Liebaers I.
    Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22).
    Mol Hum Reprod. 1999 Jul;5(7):682-690.
  115. Descartes M. & Carroll A.
    Case of supernumerary der 22, t(11/22), born to a mother mosaic for the 11/22 translocation. 
    Am J Hum Genet 1999; 65 Suppl: A150
  116. Kadir RA, Hastings R, Economides DL.
    Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: a case report.
    Prenat Diagn. 1997 Aug;17(8):761-764.
  117. Miguez et al.
    Detection of a double partial trisomy of chromosomes 11 and 22 in a chorionic villus sample.
    Cytogenet. Cell Genet. 1997, 77: 94.
  118. Kolialexi A, Fryssira H, Mavrou A, Tziropoulou M, Papandreeou U, Metaxotou C.
    Unusual supernumerary chromosome in a patient resulting from a maternal reciprocal 11q/22q translocation.
    Cytogenet Cell Genet 1997; 77: 112 (Abstractno. P238)
  119. Fuster C, Miguez L, Miro R, Rigola MA, Perez A, Egozcue J.
    Familial complex chromosome rearrangement ascertained by in situ hybridisation.
    J Med Genet. 1997 Feb;34(2):164-166.
  120. Kreuz F.R. et al.
    Hirschsprung disease in a boy with der(22)t(11;22).
    Med. Genet. 1997; 1: 65.
  121. Chen CP, Liu FF, Jan SW, Yang YC, Lan CC.
    Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus.
    Prenat Diagn. 1996 Dec;16(12):1137-1140.
  122. Petkovic I, de Capoa A, Giancotti P, Barisic I.
    Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I.
    Clin Genet. 1996 Dec;50(6):515-9.
  123. Stankiewicz P. et al.
    Marker chromosomowy jako produkt rodzinnej translokacji (11;22) rozpoznanej metodami cytogenetyki molecularnej.
    Pediatr. Polska 1996; 71:241-245 {Polish}
  124. Pallotta R, Fusilli P, Ehresmann T, Cinti R, Verrotti A, Morgese G.
    Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome.
    Clin Genet. 1996 Nov;50(5):411-416.
  125. Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H.
    Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.
    J Med Genet. 1996 Nov;33(11):952-956.
  126. Suri M. et al.
    Unusual karyotype in the offspring of an 11;22 translocation.
    Europ J Hum Genet 1996; 4 Suppl 1: 27.
  127. Gregory H. et al.
    Partial trisomy 22 including the CATCH 22 locus associated with 11q;22q translocation.
    J. Med. Genet. 1995,  v. 33, Suppl., S32.
  128. Blancato JK, Eglinton G, George J, Benkendorf J, Pinckert T, Meck J.
    Prenatal diagnosis of partial trisomy through in situ hybridization on amniocytes with whole chromosome and centromere-specific DNA probes. A case report.
    J Reprod Med. 1995 Jul;40(7):537-539.
  129. Reitnauer PJ et al.
    A subtle familial translocation 11;22 associated with macrocephaly in "balanced" carriers.
    Am J Med Genet 1995; 57 Suppl: A124
  130. Kelbova C. et al.
    Misinterpretation of a supernumerary der(22)t(11;22) chromosome as a nonmosaic trisomy 22. 
    7th Meeting of the German Soc. Hum. Genet., Berlin, 1995, 230.
  131. Lindblom A, Sandelin K, Iselius L, Dumanski J, White I, Nordenskjold M, Larsson C.
    Predisposition for breast cancer in carriers of constitutional translocation 11q;22q.
    Am J Hum Genet. 1994 May;54(5):871-876.
  132. Allanson JE.
    Unusual segregation for 11q;22q parental translocation.
    Prenat Diagn. 1993 Sep;13(9):889-891.
  133. Lurie I.W. & Podleschuk L.V.
    11q;22q translocation: Third case of imbalance not due to 3:1 nondisjunction in first meiosis.
    Am J Med Genet 1992; 42: 216.
  134. Wallerstein R, Desposito F, Aviv H, Schenk M, Wallerstein DF.
    Partial trisomy 11q in a female infant with Robin sequence and congenital heart disease.
    Cleft Palate Craniofac J. 1992 Jan;29(1):77-79.
  135. Tachdjian G, Muti C, Gaudelus J, Druart L, Martin B, Tamboise E, Nessmann C.
    Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2).
    Ann Genet. 1992;35(4):231-233. Erratum in: Ann Genet. 2003 Oct 9;553(1-2):218.
  136. Lurie I.W. et al.
    [11q;22q translocations: Clinico-cytogenetic study].
    Genetika 1992, v. 28, # 10, 129-135. {Russian}
  137. Kida M. et al.
    A case with 47,XX,+der(22),t(11;22)mat.
    Jap J Hum Genet 1991; 36:82.
  138. Clark R.D.
    A cytogenetic abnormality in tuberous sclerosis. Report of an affected infant with 47,XX,+der 22,t(11;22)(q23.3;q11.2)mat.
    Ann. New York Acad. Sci. 1991, 615: 243-251.
  139. Karimi-Nejad M.H. et al.
    Parental reciprocal translocation t(11;22) leading to partial trisomy of 11 and 22.
    Clin. Genet. 1990, 37.369.
  140. Abeliovich D, Carmi R.
    The translocation 11q;22q: a novel unbalanced karyotype.
    Am J Med Genet. 1990 Oct;37(2):288.
  141. Katafuchi Y, Hashino K, Maeno Y, Komori H, Yamashita Y, Horikawa M, Abe K, Niikawa N, Kato H.
    Partial trisomy 22 with Dandy-Walker malformation.
    Acta Paediat. Japon. 1990, v. 32, 566-570.
  142. Lockwood DH, Farrier A, Hecht F, Allanson J.
    Not all chromosome imbalance resulting from the 11q;22q translocation is due to 3:1 segregation in first meiosis.
    Hum Genet. 1989 Oct;83(3):287-288.
  143. Fialho J. et al.
    Doble trisomía 11q y 22q en gemellos.
    Arch. Pediatr. 1988, v. 39, 73-78. {Spanish}
  144. Pattemore PK, Shaw RL, Gunn TR.
    The neonatal recognition of partial 11q trisomy (previously 'trisomy 22').
    Aust Paediatr J. 1987 Jun;23(3):197-9.
  145. Sou S, Takabayashi T, Sasaki H, Sasamoto K, Shintaku Y, Li ZJ, Ozawa N, Yajima A.
    Prenatal diagnosis of partial trisomy 22 derived from a maternal t(11; 22) (q23; q11).
    Tohoku J Exp Med. 1987 Dec;153(4):389-93.
  146. Phelan M.C. et al.
    An 11q;22q translocation in two families.
    Proc. Greenwood Genet. Center 1987; 6: 22-26.
  147. Beedgen B, Nutzenadel W, Querfeld U, Weiss-Wichert P.
    "Partial trisomy 22 and 11" due to a paternal 11;22 translocation associated with Hirschsprung disease.
    Eur J Pediatr. 1986 Aug;145(3):229-232.
  148. Moore JW, Hyman S, Antonarakis SE, Mules EH, Thomas GH.
    Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].
    Hum Genet. 1986 Apr;72(4):297-302.
  149. Martin RH.
    Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11).
    Clin Genet. 1984 Apr;25(4):357-361.
  150. Najafzadeh TM, Dumars KW.
    Duplication of distal 11q and 22p occurrence in two unrelated families.
    Am J Med Genet. 1981;8(3):341-347.
  151. Pihko H, Therman E, Uchida IA.
    Partial 11q trisomy syndrome.
    Hum Genet. 1981;58(2):129-134.
  152. Nakai H, Yamamoto Y, Kuroki Y.
    Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations.
    Hum Genet. 1979 Oct 2;51(3):349-355.
  153. Pescia G, Jotterand-Bellomo M, Gaide AC.
    Un cas de trisomie 22 incomplète due à la malségrégation méiotique d'une translocation familiale 11:12 [Incomplete trisomy 22 due to meiotic malsegregation of a familial 11:12 translocation].
    Rev Med Suisse Romande. 1981 Apr;101(4):325-9. French.
  154. Benítez J, Ayuso C, García Aparicio J, Sáez E, Pérez Sotelo A, Bello MJ.
    Trisomía parcial 11q:22q. Aportación de dos nuevos casos en dos familias portadoras de translocación [Partial trisomy 11q;22q (author's transl)].
    An Esp Pediatr. 1981 Sep;15(3):293-300. Spanish.
  155. Biederman BM, Lin CC, Lowry RB, Somerville R.
    Tertiary trisomy (22q11q),47,+der(22),t(11;22).
    Hum Genet. 1980 Feb;53(2):173-177.
  156. Zackai EH, Emanuel BS.
    Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction.
    Am J Med Genet. 1980;7(4):507-521.
  157. Chauveau P, Gruchy D, Herouin C, Levesque L.
    [A new observation of trisomy 11q due to t(11,22)(q23.1; q11.1) mat (author's transl)]
    Ann Genet. 1980;23(4):213-215. French.
  158. Pangalos C, Couturier J, Bartsocas C, Theodorou S.
    Trisomie partielle 11 q par malségrégation d'une translocation maternelle t (11;22) (q23;q11.1) [Partial 11q trisomy due to missegregation of maternal t(11;22) (q23;q11.1) translocation (author's transl)].
    Nouv Presse Med. 1980 Nov 1;9(41):3065-7. French.
  159. Narahara K, Kodama Y, Kimura S, Kamoi M, Inoue H, Kimoto H.
    A case of partial trisomy 22 resulting from maternal 11/22 translocation.
    Jinrui Idengaku Zasshi. 1979 Dec;24(4):253-8.
  160. Kessel E, Pfeiffer RA
    47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22.
    Hum Genet. 1977 Jun 10;37(1):111-116.
  161. Ayraud N, Galiana A, Llyod M, Deswarte M.
    [Trisomy 11 q (q23.1 - qter) through maternal translocation t(11;22) (q23.1;q11.1). A new case]
    Ann Genet. 1976 Mar;19(1):65-68. French.
  162. Emanuel BS, Zackai EH, Aronson MM, Mellman WJ, Moorhead PS.
    Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.
    J Med Genet. 1976 Dec;13(6):501-506.
  163. Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Lagana C, Stuppia L, Sabatino G, Palka G.
    Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.
    Am J Med Genet. 2004 Jun 1;127A(2):144-148.
  164. Leve M, Paniagua R, Moore JW
    Parental origis and segregation outcomes involving the t(11;22)(q23;q11.2)
    Cytogenet Genome Res 2004; 106: 131 - abstract No 23.
  165. Reynolds A, Arora N, Donaldson A
    An extremly rare, balanced chromosome rearrangement of chromosome 22 in a normal mother of a child with a supernumerary ring chromosome 22.
    J Med Gen 2004; 41(Sup 1):S58 (Abstractno. 2.28)
  166. 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;155(2):430-433.
  167. Lin CC, Li YC, Hsieh LJ, Chen CP, Ko TM, Tzeng CC, Yang ML, Fang JS, Li MS, Tzeng LS, Pan YJ, Lin SK, Tsai FJ
    A referral center for prenatal FISH study in Taiwan-first year experience.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 194 (Abstractnumber 991).
  168. Conte RA, Cannizzaro LA, Pulijaal VR, Walsh DT, Wei D, Zohouri M, Zhou T, Deshikar AR, SanMarco L, Levy PA, Walsh C, Ramesh KH
    A de novo trisomy of 22pter-22q11.22 in a child with Ebstein's anomaly.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 193  (Abstractnumber 985)
  169. Tonk VS, Wilson G, Schutt R, Wood G, Wyandt H, Ito M.
    Costovertebral dysplasia caused by dup22(pter->q11.2).
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 151 (Abstractnumber 736)
  170. Fryns JP, Kleczkowska A, Kubien E, Van den Berghe H.
    Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.
    Hum Genet. 1986;72(1):1-8.
  171. Perry J, Nouri S, La P, Daniel A, Wu Z, Purvis-Smith S, Northrop E, Choo KH, Slater HR.
    Molecular distinction between true centric fission and pericentric duplication-fission.
    Hum Genet. 2005 Mar;116(4):300-310.
  172. Bartsch O, Rasi S, Hoffmann K, Blin N.
    FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
    Eur J Hum Genet. 2005 Mar 9; 13(5): 592-599.
  173. Denavit TM, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont ML, Burglen L, Taillemite JL, Portnoi MF.
    A new case of a severe clinical phenotype of the cat-eye syndrome.
    Genet Couns. 2004;15(4):443-448.
  174. Balci S, Engiz Ö, Yilmaz Z, Baltaci V.
    A case of Goldenhar sydrome with 47,XX,+der(22)t(11;22)(q23;q11) due to maternal balanced t(11;22); additionally 3 members of the family had the same transolcation.
    Chromosome Res 2005; 13 suppl. 1:42 (1.60-P).
  175. Diaz de Bustamente A, Darnaude MT, Liehr T, Starke H.
    Small supernumerary marker chromosome identified by cenM-FISH and subcenM-FISH as a cen 22 derived from a breakage in centromere of one 22.
    Chromosome Res 2005; 13 suppl. 1:130 (7.22-P).
  176. Gentile M, De Sanctis S, Cariola F, Spezzi T, Di Carlo A, Tontoli F, Lista F, Buonadonna AL.
    FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II.
    Eur J Med Genet. 2005, 48:33-39.
  177. Mark HF, Wyandt H, Huang XL, Milunsky JM.
    Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridization.
    Clin Genet. 2005 Aug;68(2):146-151.
  178. Bartsch O, Loitzsch A, Kozlowski P, Mazauric ML, Hickmann G.
    Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.
    Eur J Hum Genet. 2005; 13(11):1192-1204.
  179. Waggoner D, Anderson R, Schwarzt S.
    Familial cat eye syndrome.
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p125 (Abstractno. 582).
  180. Krishnamurthy D, Mohammed FM, Redha MA, Bastaki L, Al-Awadi SA.
    Familial balanced homozygous translocation, t(11;22)(q23.2;q112) in a male - Segregation and recurrency risk.
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p162 (Abstractno. 804).
  181. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, Martinez Guardia N, Sanchis A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, von Eggeling F, Starke H.
    Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation.
    Cytogenet Genome Res. 2006;112(1-2):23-34.
  182. Tonk V, Wilson G, Schutt R, Mock J, Wyandt H, Mark HF, Ito M.
    Costovertebral dysplasia in a patient with partial trisomy 22.
    Exp Mol Pathol. 2006 Apr;80(2):197-200.
  183. Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S.
    The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.
    Eur J Med Genet. 2006 May-Jun;49(3):207-314.
  184. Brecevic L, Michel S, Starke H, Muller K, Kosyakova N, Mrasek K, Weise A, Liehr T.
    Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines.
    Cytogenet Genome Res. 2006;114(3-4):319-324.
  185. Mattei JF, Philip N, Mattei MG, Giraud F.
    [Small supernumerary chromosomes]
    J Genet Hum. 1985 Dec;33(5):389-396. French.
  186. Kolialexi A, Kitsiou S, Fryssira H, Sofocleous C, Kouvidi E, Tsangaris GT, Salavoura K, Mavrou A.
    Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).
    In Vivo. 2006 Jul-Aug;20(4):473-478.
  187. Wieland I, Muschke P, Volleth M, Ropke A, Pelz AF, Stumm M, Wieacker P.
    High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).
    Genes Chromosomes Cancer. 2006 Oct;45(10):945-949.
  188. Lin CC, Hsieh YY, Wang CH, Li YC, Hsieh LJ, Lee CC, Tsai CH, Tsai FJ.
    Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype.
    Prenat Diagn. 2006 Oct;26(10):898-902.
  189. Gomez-Lado C, Eiris J, Martinez-Yriarte JM, Blanco O, Castro-Gago M.
    Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome.
    Acta Paediatr. 2006 Nov;95(11):1510-1511.
  190. Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns JP, Liehr T, Vermeesch JR.
    Array painting using microdissected chromosomes to map chromosomal breakpoints.
    Cytogenet Genome Res. 2007;116(3):158-166.
  191. Douet-Guilbert N, Marical H, Pinson L, Herry A, Le Bris MJ, Morel F, De Braekeleer M.
    Characterisation of supernumerary chromosomal markers: a study of 13 cases.
    Cytogenet Genome Res. 2007;116(1-2):18-23.
  192. Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns JP, Liehr T, Vermeesch JR.
    Array painting using microdissected chromosomes to map chromosomal breakpoints.
    Cytogenet Genome Res. 2007;116(3):158-166.
  193. Cockwell AE, Jacobs PA, Crolla JA.
    Distribution of the D15Z1 copy number polymorphism.
    Eur J Hum Genet. 2007;15:441-445.
  194. Kozlowski P, Grund I, Hickmann G, Stressig R, Knippel AJ.
    Quantitative fluorescent polymerase chain reaction versus cytogenetics: risk-related indication and clinical implication of nondetected chromosomal disorders.
    Fetal Diagn Ther. 2006;21(2):217-223.
  195. Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG.
    Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
    Genet Med. 2007 Mar;9(3):150-162.
  196. Avior G, Derowe A, Fliss DM, Leicear-Trejo L, Braverman I.
    [Associated brachial cleft anomalies in the cat eye syndrome]
    Harefuah. 2007 Feb;146(2):99-101, 166-7. Hebrew.
  197. Tönnies H, Pietrzak J, Bocian E, Macdermont K, Kuechler A, Belitz B, Trautmann U, Schmidt A, Schulze B, Rodriguez L, Binkert F, Yardin C, Kosyakova N, Volleth M, Mkrtchyan H, Schreyer I, von Eggeling F, Weise A, Mrasek K, Liehr T.
    New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.
    J Histochem Cytochem. 2007 Jun;55(6):651-660.
  198. Nasiri F, Mahjoubi F, Soleimani S, Rahnama M, Mortezapour F, Manouchehri F, Razazian F, Zamanian M.
    Chromosomal findings in 8727 Iranian patients with mental retardation.
    Europ J Hum Gen 2007, Vol 15 Suppl. 1, p111 (Abstractnr. P0348).
  199. van der Kevie-Kersemaekers AMF, Gerssen-Schoorl K, van Ravenswaaij C, Sikkema-Raddatz B.
    Tertiary trisomy and monosomy in seven individuals.
    Chr Res 2007, Vol 15 Suppl. 1, p 31 (Abstractnr. 1.19-P).
  200. Chen CP, Wang TH, Chang TY, Lee CC, Chen WL, Chen LF, Wang W.
    Prenatal diagnosis of the supernumerary der(22)t(11;22) syndrome associated with abnormal sonographic findings.
    Genet Couns. 2006;17(4):469-472.
  201. Morales C, Soler A, Margarit E, Madrigal I, Sanchez A.
    Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation.
    Am J Med Genet A. 2007 Oct 15;143(20):2423-2429.
  202. Li YC, Hsieh LJ, Chen CP, Tsai FJ, Lin CC.
    Identification of marker chromosomes using FISH-based technology and DNA polymorphic markers.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p320 (Abstractno. 1617 - information directly from poster).
  203. Une T, Yokoyama Y, Ninomiya S, Shinozuka M, Maruyama H, Morishima T.
    Assessment of molecular cytogenetic methods for the detection of chromosomal abnormalities.
    Acta Med Okayama. 2006 Oct;60(5):279-287.
  204. Rubtsov NB, Karamysheva TV, Gainer TA.
    Supernumerary marker chromosomes.
    Medical Genetic 2003; 2, N.6, 248-258 (in Russian).
  205. Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass JA, Raff ML, Norwood T, Torchia BA.
    Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
    Molecular Cytogenetics 2008, 1:7
  206. Reiss JA, Weleber RG, Brown MG, Bangs CD, Lovrien EW, Magenis RE.
    Tandem duplication of proximal 22q: a cause of cat-eye syndrome.
    Am J Med Genet. 1985 Jan;20(1):165-171.
  207. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM.
    Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
    Am J Hum Genet. 2003 Nov;73(5):1027-1040.
  208. Hathout EH, Elmendorf E, Bartley J.
    Hemifacial microsomia and abnormal chromosome 22.
    Am J Med Genet. 1998 Feb 26;76(1):71-73.
  209. Lindsay EA, Shaffer LG, Carrozzo R, Greenberg F, Baldini A.
    De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization.
    Am J Med Genet. 1995 Apr 10;56(3):296-299.
  210. Fujimoto A, Lin MS.
    De novo direct duplication of chromosome segment 22q11.2-q13.1.
    Am J Med Genet. 1996 Mar 29;62(3):300-301.
  211. Knoll JH, Asamoah A, Pletcher BA, Wagstaff J.
    Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.
    Am J Med Genet. 1995 Jan 16;55(2):221-224.
  212. Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazauric ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T.
    32 new cases with small supernumerary marker chromosomes (sSMC) detected in connection with fertility problems - detailed molecular cytogenetic characterization and review of the literature.
    Int J Mol Med 2008, 21(6):705-714.
  213. Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T.
    Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
    Mol Cytogenet. 2008 Apr 15;1(1):6.
  214. Borys D, Taxy JB.
    Congenital diaphragmatic hernia and chromosomal anomalies: autopsy study.
    Pediatr Dev Pathol. 2004 Jan-Feb;7(1):35-28.
  215. Bélien V, Gérard-Blanluet M, Serero S, Le Dû N, Baumann C, Jacquemont ML, Dupont C, Krabchi K, Drunat S, Elbez A, Janaud JC, Benzacken B, Verloes A, Tabet AC, Aboura A.
    Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.
    Am J Med Genet A. 2008 Jul 15;146A(14):1871-1874.
  216. Polityko AD, Lazjuk GI, Liehr T.
    High resolution molecular cytogenetic approaches and study of marker chromosomes.
    Medica Genetics 2008, 7(3):34-40. (in Russian)
  217. Zawada M, Jarmuz M, Wojda A, Kolowska J, Mazurek M, Latos-Bielenska A.
    A cytogenetic and FISH studies of the autosome marker chromosomes.
    Cytogenet Cell Genet 77:68 (Abstractno. P60).
  218. Ivanovic V, Grkovic S.
    Unbalanced 11;22 translocation - case report.
    Annales de Genetique 2003, 46(2-3): 241 (abstract no 7.41).
  219. Bagci G, Acar H, Koc H, Ertem N.
    Klippel-Feil syndrome with a marker chromosome.
    Cytogenet Cell Genet 1999, 85(1-2):149 (Abstractno: P620).
  220. Solak M, Tavli V, Bagci G, Fistik T, Demircan K, Kyahan B, Bagci H.
    The role of marker chromosomes in total abnormal pulmonary venous return to the coronary sinus.
    Cytogenet Cell Genet 1999, 85(1-2):165 (Abstractno: P700).
  221. Kessel E, Pfeiffer RA.
    47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22.
    Hum Genet. 1977 Jun 10;37(1):111-116.
  222. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 879ff.
  223. Jezela-Stanek A, Dobrzańska A, Maksym-Gasiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M.
    Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.
    Clin Dysmorphol. 2009 Jan;18(1):13-17.
  224. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL.
    Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
    Prenat Diagn 2009, 29:29-39.
  225. Gremeau AS, Coste K, Blanc P, Goumy C, Francannet C, Dechelotte PJ, Vago P, Laurichesse-Delmas H, Labbe A, Lemery D, Sapin V, Gallot D.
    Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome.
    Prenat Diagn. 2009 Aug;29(8):816-818.
  226. Belangero SI, Bellucco FT, Cernach MC, Hacker AM, Emanuel BS, Melaragno MI.
    Interrupted aortic arch type B in A patient with cat eye syndrome.
    Arq Bras Cardiol. 2009 May;92(5):e29-31, e56-8.
  227. Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville M, Medne L, Zackai E, Emanuel B, Kurahashi H.
    Parental origin of de novo t(11;22)(q23;q11).
    ASHG 2009; abstract only online, information from poster.
  228. Tihy F, Oprea L, Lemyre E.
    Extra structurally abnormal chromosomes: experience of a prenatal diagnostic laboratory during 11 years.
    ASHG 2009; abstract only online, information from poster.
  229. Haab, O.
    Beiträge zu den angeborenen Fehlern des Auges.
    Albrecht v. Graefes Arch. Ophthal.1878; 24, 257-281.
  230. Ichikawa M, Okajima M, Wada T, Gokan Y, Shimakage H, Tonoki H, Saitoh S.
    Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy.
    Pediatr Int. 2006 Feb;48(1):97-99.
  231. Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM.
    Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
    Am J Med Genet A. 2009 Aug;149A(8):1712-1721.
  232. Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y.
    Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome.
    Am J Med Genet A. 2009 Aug;149A(8):1722-1726.
  233. Allotey J, Lacaille F, Lees MM, Strautnieks S, Thompson RJ, Davenport M.
    Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.
    J Pediatr Surg. 2008 Sep;43(9):1736-1740.
  234. Prieto JC, Garcia NM, Elder FF, Zinn AR, Baker LA.
    Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease.
    J Pediatr Surg. 2007 Nov;42(11):1928-1932.
  235. Nelle H, Schreyer I, Ewers E, Mrasek K, Kosyakova N, Merkas M, Hamid AB, Weise A, Liehr T.
    Harmless familial small supernumerary marker chromosome 22 hampers diagnosis of fragile X-syndrome.
    Molecular Medicine Reports 2010, 3:571-574.
  236. Cejnova V, Harmas V, Wilimska M, Stara M, Soukupova M, Lastuvkova J.
    Identification and interpretation of supernumerary marker chromosomes.
    Europ J Hum Genet 2010, Vol 18 Suppl 1: 128 (Abstractnr. P03.116).
  237. Mikelsaar R, Lissitsina J, Ausmees K, Punab M, Korrovits P.
    58 new chromosome aberrations in male hypogonadism.
    Europ J Hum Genet 2010, Vol 18 Suppl 1: p118 (Abstractnr. P03.0).
  238. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC.
    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
    Mol Cytogenet. 2010 Jun 29;3:11.
  239. Prasher VP, Roberts E, Norman A, Butler AC, Krishnan VH, McMullan DJ.
    Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
    J Med Genet. 1995 Apr;32(4):306-308.
  240. Karcaaltincaba D, Ceylaner S, Ceylaner G, Dalkilic S, Karli-Oguz K, Kandemir O.
    Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies.
    Genet Couns. 2010;21(1):19-24.
  241. Mundhofir FE, Kooper AJ, Winarni TI, Smits AP, Faradz SM, Hamel BC.
    A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.
    Genet Couns. 2010;21(1):99-108.
  242. Fahnehjelm KT, Fischler B, Martin L, Nemeth A.
    Occurrence and pattern of ocular disease in children with cholestatic disorders.
    Acta Ophthalmol. 2011 Mar;89(2):143-150.
  243. Draaken M, Reutter H, Schramm C, Bartels E, Boemers TM, Ebert AK, Rösch W, Schröder A, Stein R, Moebus S, Stienen D, Hoffmann P, Nöthen MM, Ludwig M.
    Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.
    Eur J Med Genet. 2010 Mar-Apr;53(2):55-60.
  244. Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, Schoumans J, Läckgren G, Kockum CC, Nordenskjöld A.
    22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.
    Eur J Med Genet. 2010 Mar-Apr;53(2):61-65.
  245. Raca G, Schimmenti L, Martin CL.
    Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.
    Am J Med Genet A. 2008 Feb 1;146(3):401-404.
  246. Bradley L, Murtagh K, McConnell V.
    Cat eye syndrome: The North Ireland experience.
    J Med Genet 2010; 47: Suppl. 1: S44 (Abstract No. 1.15).
  247. Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti S-M, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Μalathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S.
    Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.
    Mol Med Rep 2010, 3:1015-1022.
  248. Balkan M, Isi H, Gedik A, Erdemoğlu M, Budak T.
    A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions.
    Genet Mol Res. 2010 Aug 24;9(3):1683-1689.
  249. Van Opstal D, Boter M, Noomen P, Srebniak M, Hamers G, Galjaard RJ.
    Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.
    Mol Cytogenet 2011; 4:2.
  250. Pini Prato A, Rossi V, Avanzini S, Mattioli G, Disma N, Jasonni V.
    Hirschsprung's disease: what about mortality?
    Pediatr Surg Int. 2011 May;27(5):473-478.
  251. Rosa RF, Mombach R, Zen PR, Graziadio C, Paskulin GA.
    [Clinical characteristics of a sample of patients with cat eye syndrome.].
    Rev Assoc Med Bras. 2010 Jul-Aug;56(4):462-466. Portuguese.
  252. Afroze B, Ngu LH, Roziana A, Aminah M, Noor Shahizan A.
    Supernumerary derivative (22) syndrome resulting from a maternal balanced translocation.
    Singapore Med J. 2008 Dec;49(12):e372-374.
  253. Garcia-Vielma C, de la Rosa-Alvarado RM, Nieto-Martinez K, Cortes-Gutierrez EI, de la Fuente-Cortez B.
    Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report.
    J Assoc Genet Technol. 2010;36(4):189-193.
  254. Bocian E, Nowakowska B, Obersztyn E, Borg K, Chudoba I, Kostyk E, Kruczek A, Pietrzyk J, Mazurczak T.
    [Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations].
    Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):211-225. Polish.
  255. Chen CP, Lin CC, Su YN, Tsai FJ, Chern SR, Lee CC, Chen WL, Chen LF, Wu PC, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 22.
    Taiwan J Obstet Gynecol. 2010 Sep;49(3):381-384.
  256. Ko JM, Kim JB, Pai KS, Yun JN, Park SJ.
    Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.
    J Korean Med Sci. 2010 Dec;25(12):1798-1801.
  257. Toutain J, Taine L, Morice-Picard F, Hallal H, Dai ZQ, Arveiler B, Lacombe D, Horovitz J, Saura R.
    An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.
    Eur J Med Genet. 2011 2011 May-Jun;54(3):292-294.
  258. Mikelsaar R, Lissitsina J, Bartsch O.
    Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism.
    J Appl Genet. 2011 Aug;52(3):331-334.
  259. Kitsiou-Tzeli S, Stefanaki K, Syrmou A, Kosma K, Giannikou K, Oikonomakis V, Choulakis M, Kolialexi A, Makrythanasis P, Tzetis M
    Cat-eye syndrome phenotype and extragonadal mature teratoma: an unusual case of dup 22q11.1q11.21.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) pp 80-81 (Abstractnr. P02.054)
  260. Morin G, Kanafani S, Braun K, Jedraszak G, Andrieux J, Copin H, Mathieu M.
    Recurrence of cat-eye syndrome secondary to parental somatic mosaicism
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p (Abstractnr. P03.041)
  261. Krutilkova V, Hlavova E, Trkova M, Becvarova V, Smetanova D, Stejskal D.
    Two prenatal cases of 22q11 duplication detected by SNP array.
    Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 186 (Abstractnr. P05.53)
  262. Tzetis M, Stefanaki K, Syrmou A, Kosma K, Leze E, Giannikou K, Oikonomakis V, Choulakis M, Kolialexi A, Makrythanasis P, Kanavakis E, Kitsiou-Tzeli S
    An unusual case of dup 22q11.1q11.21 Cat-Eye syndrome with extra gonadal mature teratoma
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S46-47 (Abstractnr. 1.P19)
  263. Mathieu M, Morin G, Kanafani S, Braun K, Demeer B, Lichtenberger L, Receveur A, Jedraszak G, Andrieux J, Copin H.
    Recurrence of cat-eye syndrome secondary to parental somatic mosaicism.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1256F.
  264. Tzetis M, Stefanaki K, Syrmou A, Kosma K, Leze E, Giannikou K, Oikonomakis V, Sofocleous C, Choulakis M, Kolialexi A, Makrythanasis P, Kitsiou-Tzeli S.
    An unusual case of cat-eye syndrome phenotype and extragonadal mature teratoma: Review of the literature.
    Birth Defects Res A Clin Mol Teratol. 2012 Jul;94(7):561-566.
  265. Yu S, Fiedler SD, Brawner SJ, Joyce JM, Zhou XG, Liu HY.
    Characterizing small supernumerary marker chromosomes with combination of multiple techniques.
    Cytogenet Genome Res. 2012;136(1):6-14.
  266. Caglayan AO, Klammt J, Kiess W, Hatipoglu N, Pfäffle R, Kurtoglu S, Saatci C, Dundar M.
    A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation?
    Genet Couns. 2010;21(2):187-197.
  267. Anguiano A, Wang BT, Wang SR, Boyar FZ, Mahon LW, El Naggar MM, Kohn PH, Haddadin MH, Sulcova V, Sbeiti AH, Ayad MS, White BJ, Strom CM.
    Spectral karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.
    Mol Cytogenet. 2012 Jan 16;5(1):3
  268. Kvarnung M, Lindstrand A, Malmgren H, Thåström A, Jacobson L, Dahl N, Lundin J, Blennow E.
    Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype.
    Am J Med Genet A 2012, 158A:1111-1117.
  269. Walfisch A, Mills KE, Chodirker BN, Berger H.
    Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature.
    Arch Gynecol Obstet. 2012 Aug;286(2):299-302.
  270. Lee CN, Lin SY, Lin CH, Shih JC, Lin TH, Su YN.
    Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies.
    BJOG. 2012 Apr;119(5):614-625.
  271. Taira IT, Gaspar ALC, Sandri RMCS, Rodrigues RM, Kamiya TY.
    Origem das anomalias cromossomicas estruturais observadas em una amostra de 53 individuas portadores de multiplas anomalias associadas a fissure labiopalatina.
    Resumos do II EPACITO - Encontro Paulista de Citogenética 22 a 24 de abril de 2012 • Ribeirão Preto • SP • Brasil
  272. Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ.
    A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
    Eur J Hum Genet. 2012 Sep;20(9):986-989.
  273. Mämecke L, Hoefers C, Hagemann M, Hoffmann K.
    The clinical presentation of a newborn girl with isodicentric chromosome 22.
    Europ J Hum Genet 2012; 20 (Suppl. 1), p 62, Abstractnr. P02.057).
  274. Gencik-Guillier Z, Lott A, Gabriel H.
    Emanuel syndrome: breakpoint determination.
    Europ J Hum Genet 2012; 20 (Suppl. 1), p 69, Abstractnr. P02.089).
  275. Hamid AB, Kreskowski K, Weise A, Kosayakova N, Mrasek K, Voigt M, Guilherme RS, Wagner R, Hardekopf D, Pekova S, Karamysheva T, Liehr T, Klein E.
    How to narrow down chromosomal breakpoints in small and large derivative chromosomes - a new probe set.
    J Appl Genet. 2012 Aug;53(3):259-269.
  276. Belangero SI, Pacanaro AN, Bellucco FT, Christofolini DM, Kulikowski LD, Guilherme RS, Bortolai A, Dutra AR, Piazzon FB, Cernach MC, Melaragno MI.
    Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.
    Cytogenet Genome Res. 2012;138:5-10.
  277. Perrin A, Nguyen MH, Delobel B, Gueganic N, Basinko A, Le Bris MJ, Douet-Guilbert N, De Braekeleer M, Morel F.
    Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: Case report and literature review.
    Eur J Med Genet. 2012 Dec;55(12):743-746.
  278. Doneda L, Dalprà L, Tibiletti MG, Larizza L.
    Prenatal diagnosis of an extranumerary i(22p) with normal phenotype.
    Ann Genet. 1993;36(3):154-158.
  279. Takano T, Yamanouchi Y, Tanaka F.
    True hermaphroditism with 46,X,+22p/46,XY and gonadal mosaicism detected by fluorescence in situ hybridization.
    Ann Genet. 2003 Jan-Mar;46(1):57-60.
  280. Córdova-Fletes C, Domínguez MG, Vázquez-Cárdenas A, Figuera LE, Neira VA, Rojas-Martínez A, Ortiz-López R.
    A de novo sSMC(22) characterized by high-resolution arrays in a girl with cat-eye syndrome without coloboma.
    Mol Syndromol. 2012 Sep;3(3):131-135.
  281. Perrin A, Nguyen MH, Delobel B, Guéganic N, Basinko A, Le Bris MJ, Douet-Guilbert N, De Braekeleer M, Morel F.
    Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: Case report and literature review.
    Eur J Med Genet. 2012 Dec;55(12):743-746.
  282. Ou J, Wang W, Liehr T, Klein E, Hamid AB, Wang F, Duan C, Li H.
    Characterization of three small supernumerary marker chromosomes (sSMC) in humans.
    J Matern Fetal Neonatal Med. 2013 Jan;26(1):106-108.
  283. 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):825-835.
  284. Bouhjar IB, Hannachi H, Zerelli SM, Labalme A, Gmidène A, Soyah N, Missaoui S, Sanlaville D, Elghezal H, Saad A.
    Array-CGH study of partial trisomy 9p without mental retardation.
    Am J Med Genet A. 2011 Jul;155A(7):1735-1739.
  285. Córdova-Fletes C, Domínguez MG, Vázquez-Cárdenas A, Figuera LE, Neira VA, Rojas-Martínez A, Ortiz-López R.
    A de novo sSMC(22) characterized by high-resolution arrays in a girl with cat-eye syndrome without coloboma.
    Mol Syndromol. 2012 Sep;3(3):131-135.
  286. Zaki MS, Mohamed AM, Kamel AK, El-Gerzawy AM, El-Ruby MO.
    Emanuel syndrome due to unusual segregation of paternal origin.
    Genet Couns. 2012;23(2):319-328.
  287. Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet A, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier M, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca A, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.
    Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
    Clin Genet. 2014 Mar;85(3):233-244.
  288. Liehr T, Klein E, Mrasek K, Kosyakova N, Guilherme RS, Aust N, Venner C, Weise A, Hamid AB.
    Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes.
    Cytogenet Genome Res. 2013; 139(1-2):158-163.
  289. Zolotukhina TV, Shilova NV, Judina EV, Minzhenkova ME, Kozlova YO.
    Small supernumerary marker chromosomes (sSMC) detected prenatally.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 592 (Abstractnr. J19.50).
  290. Shilova NV, Minzhenkova ME, Markova ZG, Kozlova YO, Antonenko VG, Tsvetkova TG, Zolotukhina TV.
    Characterization of 42 small supernumerary marker chromosomes by FISH methods.
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 603 (Abstractnr. J20.07).
  291. Dimassi S, Labalme A, Cordier M, Rafat A, Till M, Edery P, Sanlaville D, Schluth-Bolard C
    Inherited Cat-Eye Syndrome due to an unusual dicentric monosatellited derivative chromosome 22
    Europ J Hum Genet 2013, Vol. 21 Suppl 2, p 450 (Abstractnr. P20.06).
  292. Haltrich I, Piko H, Kis E, Karcagi V, Fekete G.
    A de novo atypical sSMC(22) characterized by array-CGH in a boy with cat-eye syndrome (CES), Duane anomaly and no coloboma.
    Chromosome Res 2013, 21:S47 (Abstractnr. 1.P32).
  293. Hill AS, Foot NJ, Chaplin TL, Young BD.
    The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific alu-mediated recombination.
    Hum Mol Genet. 2000 Jun 12;9(10):1525-1532.
  294. Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS.
    A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
    Am J Hum Genet. 2010 Aug 13;87(2):209-218.
  295. Gotter AL, Nimmakayalu MA, Jalali GR, Hacker AM, Vorstman J, Conforto Duffy D, Medne L, Emanuel BS.
    A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.
    Genome Res. 2007 Apr;17(4):470-481.
  296. Sánchez O, Yunis JJ.
    Partial trisomy 8 (8q24) and the trisomy-8 syndrome.
    Humangenetik. 1974;23(4):297-303.
  297. Rethoré MO, Aurias A, Couturier J, Dutrillaux B, Prieur M, Lejeune J.
    [Chromosome 8 : complete trisomy and segmental trisomies].
    Ann Genet. 1977 Mar;20(1):5-11.
  298. Helbig I, Wirtenberger M, Jauch A, Hager HD, Tariverdian G, Hemminki K, Burwinkel B, Klaes R.
    Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma.
    Am J Med Genet A. 2006 Aug 1;140(15):1658-1662.
  299. Liehr T, Cirkovic S, Lalic T, Guc-Scekic M, de Almeida C, Weimer J, Iourov I, Melaragno MI, Guilherme RS, Stefanou EG, Aktas D, Kreskowski K, Klein E, Ziegler M, Kosyakova N, Volleth M, Hamid AB.
    Complex small supernumerary marker chromosomes - an update.
    Mol Cytogenet. 2013 Oct 31;6(1):46.
  300. Castronovo C, Valtorta E, Crippa M, Tedoldi S, Romitti L, Amione MC, Guerneri S, Rusconi D, Ballarati L, Milani D, Grosso E, Cavalli P, Giardino D, Bonati MT, Larizza L, Finelli P.
    Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
    Mol Cytogenet. 2013 Oct 30;6(1):45.
  301. Chen CP, Ko TM, Chen YY, Su JW, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome.
    Gene. 2013 Sep 15;527(1):384-388.
  302. Ou J, Wang W, Duan CY, Fu WY, Liu YL, Sun J, Zhong HL, Li H.
    [Identification of human small supernumerary marker chromosomes and discussion of its research value].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):91-94.
  303. Quintero-Rivera F, Martinez-Agosto JA.
    Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.
    Am J Med Genet A. 2013 Aug;161A(8):1985-1991.
  304. Jedraszak G, Receveur A, Andrieux J, Naepels P, Mathieu-Dramard M, Bremond-Gignac D, Sevestre H, Copin H, Rochette J.
    A severe prenatal presentation of Cat Eye Syndrome.
    Clin Dysmorphol. 2013 Oct;22(4):175-177.
  305. Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S.
    Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.
    Gene. 2013 Oct 15;529(1):186-189.
  306. Torti EE, Braddock SR, Bernreuter K, Batanian JR.
    Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.
    Am J Med Genet A. 2013 Aug;161A(8):1992-1998.
  307. Chellapandian D, Schneider A.
    Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum.
    Case Rep Pediatr. 2013;2013:218124.
  308. Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS.
    Derivative 11;22 (emanuel) syndrome: a case report and a review.
    Case Rep Pediatr. 2013;2013:237935.
  309. Glaser TS, Rauen KA, Jeng LJ, de Alba Campomanes AG.
    Lipodermoid in a patient with Emanuel syndrome.
    J AAPOS. 2013 Apr;17(2):211-213.
  310. Doyen J, Carpentier X, Haudebourg J, Hoch B, Karmous-Benailly H, Ambrosetti D, Fabas T, Amiel J, Lambert JC, Pedeutour F.
    Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer.
    Cancer Genet. 2012 Nov;205(11):603-607.
  311. Malvestiti F, De Toffol S, Grimi B, Chinetti S, Marcato L, Agrati C, Di Meco AM, Frascoli G, Trotta A, Malvestiti B, Ruggeri A, Dulcetti F, Maggi F, Simoni G, Grati FR.
    De novo small supernumerary marker chromosomes detected on 143000 consecutive prenatal diagnoses: chromosomal distribution, frequencies and characterization combining molecular-cytogenetics approaches.
    Prenat Diagn. 2014 May;34(5):460-468.
  312. Dutta UR, Vempally S, Ranganath P, Dalal A.
    A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: Molecular characterization of the marker.
    Gene. 2014 Apr 10;539(1):162-167.
  313. Receveur A, Jedraszak G, Kanafani S, Andrieux J, Mathieu M, Naeples P, Sevestre H, Demeer B, Dery T, Morin G, Copin H.
    Atypical prenatal case of cat eye syndrome.
    Europ J Hum Genet 2014: 21(Suppl 2):430 (Abstractnr. P19.11).
  314. Dimassi S, Labalme A, Cordier M, Rafat A, Till M, Edery P, Sanlaville D, Schluth-Bolard C.
    Inherited Cat-Eye Syndrome due to an unusual dicentric monosatellited derivative chromosome 22.
    Europ J Hum Genet 2014: 21(Suppl 2):450 (Abstractnr. P20.06).
  315. Kurahashi H, Inagaki H, Ohye T, Tsutsumi M, Kato T, Okamoto N.
    Towards the identification of novel palindrome-mediated translocations.
    Europ J Hum Genet 2014: 21(Suppl 2):462 (Abstractnr. P20.54).
  316. Alp MY, Tos T, Okumus N.
    A patient with SMC(22) due to the maternal translocation t(16;22)(p13.1;q11.2)
    Europ J Hum Genet 2014: 21(Suppl 2):486 (Abstractnr. J02.56).
  317. Zolotukhina TV, Shilova NV, Judina EV, Minzhenkova ME, Kozlova YO.
    Small supernumerary marker chromosomes (sSMC) detected prenatally.
    Europ J Hum Genet 2014: 21(Suppl 2):592 (Abstractnr. J19.50).
  318. Sharma D, Murki S, Pratap T, Vasikarla M.
    Cat eye syndrome.
    BMJ Case Rep. 2014 May 19;2014. pii: bcr2014203923.
  319. Haltrich I, Pikó H, Kiss E, Tóth Z, Karcagi V, Fekete G.
    A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.
    Mol Cytogenet    . 2014 Jun 5;7:37.
  320. Law H, Brett M, Yong M, Yon H, Roch R, Tan M, Ee H,TanE, Cham B, Lim J, Tan E, Ng I, Jamuar S, Lai A.
    Clinical Implementation of Chromosome Microarray Analysis in Singapore.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p664 (Abstractno. 2668T)
  321. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  322. Nishinarita R, Mihara T, Nakamura N, Miyamoto Y, Ka K.
    Anesthetic management of pediatric patients with Emanuel syndrome.
    J Anesth    . 2015  Jun;29(3):450-452.
  323. Ohye T, Inagaki H, Kato T, Tsutsumi M, Kurahashi H.
    Prevalence of Emanuel syndrome: theoretical frequency and surveillance result.
    Pediatr Int. 2014 Aug;56(4):462-466.
  324. Tsai MC, Chou YY, Wang JN, Wu JM, Huang CC, Kuo PL, Tsai YS.
    Type B interrupted aortic arch and hydrocephalus associated with mosaicism of a 1.37 Mb amplified Cat Eye syndrome critical region.
    pediatr Neonatol. 2015 Jan 3. pii: S1875-9572(14)00204-6.
  325. Jedraszak G, Receveur A, Andrieux J, Mathieu-Dramard M, Copin H, Morin G.
    Severe psychomotor delay in a severe presentation of cat-eye syndrome.
    Case Rep Genet. 2015;2015:943905.
  326. Lo KK, Karampetsou E, Boustred C, McKay F, Mason S, Hill M, Plagnol V, Chitty LS.
    Limited clinical utility of non-invasive prenatal testing for subchromosomal abnormalities.
    Am J Hum Genet. 2016 Jan 7;98(1):34-44.
  327. Mc Cormack A, Claxton K, Ashton F, Asquith P, Atack E, Mazzaschi R, Moverley P, O'Connor R, Qorri M, Sheath K, Love DR, George AM.
    Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.
    Mol Cytogenet. 2016 Mar 31;9:29.
  328. Hu YA, Cui Y, Fan X, Wu Q, Li W, Wang W.
    Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.
    Mol Cytogenet. 2016 May 3;9:37.
  329. Ikbal Atli E, Gürkan H, Vatnasever Ü, Ulusal S, Tozkir H.
    A case with Emanuel syndrome: extra derivative chromosome 22 inherited from the mother.
    Balk J Med Genet 2015; 18(2):77-82.
  330. Jancevska S, Kitanovski M, Laban N, Danilovski D, Tasic V, Gucev ZS.
    Emanuel Syndrome (ES): new case-report and review of the literature.
    Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(1):205-8.
  331. von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert AK, Rösch W, Stein R, Boemers TM, Hirsch K, Marcelis C, Feitz WF, Brusco A, Migone N, Di Grazia M, Moebus S, Nöthen MM, Reutter H, Ludwig M, Draaken M.
    CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
    BMC Med Genet. 2016 Apr 30;17(1):35.
  332. Mosallanejad A, Sayarifard F, Hosseinverdi S, Abbasi F, Shabni Mirzaee H, Rezaei N.
    Proptosis, micrognathia, low set ear and chest deformity in a patient with extra marker chromosome 22.
    Acta Med Iran. 2015 Dec;53(12):782-4.
  333. Jedraszak G, Braun K, Receveur A, Decamp M, Andrieux J, Rabbind Singh A, Copin H, Bremond-Gignac D, Mathieu M, Rochette J, Morin G.
    Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.
    Ann Endocrinol (Paris)    . 2015 Oct;76(5):629-34.
  334. Brugts JJ, Cuypers JA, Polak P, Ouhlous M, van de Woestijne P, Wessels M, Roos-Hesselink J.
    Quadricuspid aortic valve and anomalous systemic venous connection in a patient with cat-eye syndrome.
    Circulation. 2015 Mar 31;131(13):1225-7.
  335. Vahidi Mehrjardi MY, Dehghan Tezerjani M, Nori-Shadkam M, Kalantar SM, Dehghani M.
    Newborn with supernumerary marker chromosome derived from chromosomes 11 and 22- A case report.
    Iran J Public Health. 2016 Mar;45(3):376-80.
  336. Jang W, Chae H, Kim J, Son JO, Kim SC, Koo BK, Kim M, Kim Y, Park IY, Sung IK.
    Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.
    Mol Cytogenet. 2016 Aug 8;9:61.
  337. Luo JW, Yang H, Tan ZP, Tu M, Luo H, Yang YF, Xie L.
    A clinical and molecular analysis of a patient with Emanuel syndrome.
    Mol Med Rep 2017 Mar;15(3):1348-1352.
  338. Tsukamoto M, Hitosugi T, Esaki K, Yokoyama T.
    Anesthetic Management of a Patient With Emanuel Syndrome.
    Anesth Prog    . 2016 Winter;63(4):201-203.
  339. Wu Y, Wang Y, Tao J, Han X, Zhao X, Liu C, Gao L, Cheng W.
    The clinical use of chromosomal microarray analysis in detection of fetal chromosomal rearrangements: a study from China Mainland.
    Eur J Obstet Gynecol Reprod Biol. 2017 May;212:44-50. 
  340. Li X, Liu Y, Yue S, Wang L, Zhang T, Guo C, Hu W, Kagan KO, Wu Q.
    Uniparental disomy and prenatal phenotype: Two case reports and review.
    Medicine (Baltimore). 2017 Nov;96(45):e8474.
  341. Liehr T, Acquarola N, Pyle K, St-Pierre S, Rinholm M, Bar O, Wilhelm K, Schreyer I.
    Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos.
    Clin Genet. 2018 Feb;93(2):378-381. 
  342. AlSubaihin A, VanderMeulen J, Harris K, Duck J, McCready E.
    Müllerian agenesis in cat eye syndrome and 22q11 chromosome abnormalities: A case report and literature review.
    J Pediatr Adolesc Gynecol    . 2018 Apr;31(2):158-161.
  343. Zhao Y, Pang H, Gao M, Feng X, Guan Y, Zhao H, Tong D, Hua J, Cao X, He S, Li-Ling J.
    [Genetic diagnosis and follow up of a fetus with Emanuel syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):709-713. doi: 10.3760/cma.j.issn.1003-9406.2017.05.020. Chinese.
  344. Sun M, Zhang H, Li G, Guy CJ, Wang X, Lu X, Gong F, Lee J, Hassed S, Li S.
    Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization.
    Sci Rep. 2017 Sep 4;7(1):10395.
  345. Al-Rikabi ABH, Pekova S, Fan X, Jančušková T, Liehr T.
    Small supernumerary marker chromosome may provide information on dosage-insensitive pericentric regions in human.
    Curr Genomics 2018; 19:192-199.
  346. Shen Y, Kong H, Zeng H, Wu Q, Chen J, Zhou D, Zhang J, Ge Y, Ding F.
    [Cytogenetic and molecular genetic analysis of the amniotic fluid cells of a fetus with pseudodicentric isochromosome 22 resulting in partial tetraploidy of 22q].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi    . 2018 Apr 10;35(2):272-275.
  347. Alsat EA, Reutter H, Bagci S, Kipfmueller F, Engels H, Raff R, Mangold E, Gembruch U, Geipel A, Müller A, Schaible T.
    Congenital diaphragmatic hernia in a case of Cat eye syndrome.
    Clin Case Rep. 2018 Jul 23;6(9):1786-1790.
  348. Saffren BD, Capasso JE, Zanolli M, Levin AV.
    Ocular manifestations of Emanuel syndrome.
    Am J Med Genet A. 2018 Sep;176(9):1964-1967.
  349. Pezas T, Slator R, White N, Lloyd M.
    Single suture synostosis and isolated cleft palate in non-Apert syndrome patients.
    J Craniofac Surg. 2019 Mar/Apr;30(2):363-365.
  350. Shenoy RD, Shenoy V, Shetty V.
    Chromosomal abnormalities in syndromic orofacial clefts: Report of three children.
    Case Rep Genet. 2018 Sep 9;2018:1928918.
  351. Correll-Tash S, Conlin L, Mininger BA, Lilley B, Mennuti MT, Emanuel BS.
    The recurrent t(11;22)(q23;q11.2) can occur as a post-zygotic event.
    Cytogenet Genome Res. 2018;156(4):185-190.
  352. Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR.
    Phenotypic characterization of derivative 22 syndrome: case series and review.
    J Genet    . 2018 Mar;97(1):205-211.
  353. Puranik CP, Katechia B.
    Oral and dental findings in Emanuel syndrome.
    Int J Paediatr Dent. 2019 Sep;29(5):677-682.
  354. Zhang K, Huang Y, Dong R, Yang Y, Wang Y, Zhang H, Zhang Y, Gai Z, Liu Y.
    Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.
    Mol Cytogenet    . 2018 Feb 20;11:18.
  355. Gardner RJ, Dockery HE, Fitzgerald PH, Parfitt RG, Romain DR, Scobie N, Shaw RL, Tumewu P, Watt AJ.
    Mosaicism with a normal cell line and an autosomal structural rearrangement.
    Med Genet    . 1994 Feb;31(2):108-14.
  356. Huang MH, Lee C, Chang JS, Wang HC, Lai HL, Chang CC, Chen TW, Li YF, Lin TT, Yang CY, Ho SP.
    Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.
    Taiwan J Obstet Gynecol    . 2019 Jan;58(1):139-144.
  357. Wu X, An G, He D, Shen Q, Cai M, Huang H, Lin Y, Xu L.
    [Prenatal diagnosis and clinical analysis of two fetuses with Cat-eye syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):498-501.
  358. Liehr T, Al-Rikabi A.
    Mosaicism: Reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse autcome. A systematic review.
    Front Genet    . 2019 Nov 11;10:1131.
  359. Xue H, Huang H, Wang Y, An G, Zhang M, Xu L, Lin Y.
    Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.
    Mol Cytogenet    . 2019 Mar 11;12:13.
  360. Mota Freitas M, Oliveira FP, Candeias C, Felício S, Soares AR, Fortuna A, Oliva-Teles N.
    Small supernumerary marker chromosome a case of Cat eye syndrome.
    Abstracts of the 12th European Cytogenomics Conference 2019; 1.P30
  361. Markova Z, Tarlicheva A, Minzhenkova M, Shilova N.
    Characterization and meiotic segregation of a supernumerary marker chromosome in the sperm of a phenotypically normal male.
    Abstracts of the 12th European Cytogenomics Conference 2019; 1.P40
  362. Schinzel A, D'Apuzzo V.
    Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2).
    Ophthalmic Paediatr Genet    . 1990 Jun;11(2):139-42.
  363. Luo Y, Lin J, Sun Y, Qian Y, Wang L, Chen M, Dong M, Jin F.
    Non-invasive prenatal screening for Emanuel syndrome.
    Mol Cytogenet. 2020 Mar 4;13:9. 
  364. Slimani W, Jelloul A, Al-Rikabi A, Sallem A, Hasni Y, Chachia S, Ernez A, Chaieb A, Bibi M, Liehr T, Saad A, Mougou-Zerelli S.
    Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives.
    J Assist Reprod Genet 2020, 37:1729-1736.
  365. Zhou L, Zheng Z, Wu L, Xu C, Wu H, Xu X, Tang S.
    Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.
    Mol Cytogenet 2020, 13 (1):19.
  366. Li T, Sang H, Chu G, Zhang Y, Qi M, Liu X, Cui W, Zhao Y.
    Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.
    Mol Cytogenet 2020;13:30.
  367. Aldeiri B, Giamouris V, Pushparajah K, Miller O, Baker A, Davenport M.
    Cardiac-associated biliary atresia (CABA): a prognostic subgroup.
    Archives of Disease in Childh    hood 2021;106:68-72.
  368. Alamer L, Bassant S, Alhazmi R, Alzahrani M.
    Rare otologic presentation of cat eye syndrome.
    Ann Saudi Med 2019, 39(6):441-443.
  369. Tóthová K, Žákovičová A, Minárik G, Landlová D, Tomková E, Tomka M, Wlachovská L, Hrčková G, Križan P, Lukačková R.
    Finding of a marker chromosome in a child with Cat-eye syndrome (case study).
    Newslab, 2019; 10 (2): 107-110. (Czech)
  370. Nakamura H, Puri P.
    Concurrent Hirschsprung's disease and anorectal malformation: a systematic review.
    Pediatr Surg Int. 2020;36(1):21-24.
  371. Saleem MM, Alzuobi MN, Shahait AD.
    Cat eye syndrome, anorectal malformation, and Hirschsprung's disease.
    J Indian Assoc Pediatr Surg. 2014;19(2):119-120.
  372. Joshi A, Lall M, Agarwal S, Paliwal P, Saviour P, Mahajan S, Puri R, Bijarnia S, Verma I.
    Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples.
    Obstet Gynecol Int J. 2019;10(3):211‒221.
  373. Tug E, Karaoguz MY, Ergun MA.
    Prenatal and postnatal clinical spectrum of a mosaic small supernumerary marker chromosome 22.
    Int J Pediat Child Health 2019; 7, 36-39.
  374. Katz B, Enright J, Couch S, Harocopos G, Lee AR.
    Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst.
    Ophthalmic Genet. 2020 Dec;41(6):645-649.
  375. Soto-Brambila AP,  Marín-Medina A, Michel-Ocampo M, Figuera-Villanueva LE, Rivero-Moragrega P.
    Emanuel syndrome: first case reported in Mexico.
    Investigación Clínica 2018, 59(1):41-46.
  376. Hernández-Medrano C, Hidalgo-Bravo A, Villanueva-Mendoza C, Bautista-Tirado T, Apam-Garduño D.
    Mosaic cat eye syndrome in a child with unilateral iris coloboma.
    Ophthalmic Genetics 2021; 42:1, 84-87,
  377. Liehr T, Williams HE, Ziegler M, Kankel S, Padutsch N, Al-Rikabi A.
    Small supernumerary marker chromosomes derived from chromosome 14 and/or 22.
    Mol Cytogenet. 2021 Feb 25;14(1):13.
  378. Xue H, Chen X, Lin M, Lin N, Huang H, Yu A, Xu L.
    Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis.
    Aging (Albany NY). 2020 Dec 9;13(2):2135-2148.
  379. Yurchenko D, Minzhenkova M, Markova Z, Tarlycheva A, Shilova N.
    Using FISH for characterization in detail of small supernumerary marker chromosomes in patients without phenotypic features.
    ECA-Newsletter 2021, 48, pp42-43. Poster     3.P36.
  380. Markova Z, Minzhenkova M, Tarlicheva A, Shilova N.
    Characterization of small supernumerary marker chromosomes in individuals without phenotypic abnormalities.
    ECA-Newsletter 2021, 48, p39. Poster 3.P29.
  381. Liehr T, Fleischer N, Al-Rikabi A.
    Next- generation phenotyping in cat- eye syndrome based on computer- aided facial dysmorphology analysis of normal photographs.
    Mol Genet Genomic Med. 2021; 00:e1785. 
  382. Li J, Zhang Y, Diao Y, Li R, Jiang L, Zhou L, Liu J, Duan W, Yang L.
    A de novo sSMC (22) characterized by high-resolution chromosome microarray analysis in a Chinese boy with cat-eye syndrome.
    Case Rep Genet. 2021 Feb 27;2021:8824184.
  383. Abdullah, Li C, Zhao M, Wang X, Li X, Xing J.
    Hypogonadotropic hypogonadism associated with another small supernumerary marker chromosome (sSMC) derived from chromosome 22, a case report.
    Transl Androl Urol. 2021 Apr;10(4):1797-1802.
  384. Kozlova A, DeMaria LN, Tran AQ, North VS, Belinsky I.
    Congenital eyelid imbrication and floppy eyelid syndrome in a patient with cat eye syndrome.
    Ophthalmic Plast Reconstr Surg.     2022 Mar-Apr;38(2):e36-e38.
  385. Dicipulo R, Norton KA, Fairbridge NA, Kibalnyk Y, Fox SC, Hornberger LK, McDermid HE.
    Cecr2 mutant mice as a model for human cat eye syndrome.
    Sci Rep. 2021 Feb 4;11(1):3111.
  386. El Hamichi S, Acón D, Murray TG, Berrocal AM.
    Multimodal imaging of large optic disc coloboma: A report of three cases.
    Case Rep Ophthalmol. 2020 Nov 10;11(3):612-619.
  387. Adams LE, Chapman A, Cormack CL, Campbell K, Ebanks AH, Annibale DJ, Hollinger LE.
    Emanuel syndrome and congenital diaphragmatic hernia: A systematic review.
    J Pediatr Surg. 2021 Nov 20:S0022-3468(21)00777-6.
  388. Hayakawa K, Kawase K, Fujimoto M, Nakamura Y, Saitoh S.
    Utility of breakpoint-specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome.
    Pediatr Int. 2021 Dec;63(12):1534-1536.
  389. Williams JL, McDonald MT, Seifert BA, Deak KL, Rehder CW, Campbell MJ.
    An unusual association: Total anomalous pulmonary venous return and aortic arch obstruction in patients with cat eye syndrome.
    J Pediatr Genet. 2021 Mar;10(1):35-38.
  390. Lemskaya NA, Romanenko SA, Maksimova YV, Shorina AR, Yudkin DV.
    Identification of satellited markers by microdissection and fluorescence in situ hybridization: a clinical case of isodicentric chromosome 22.
    Egypt J Med Hum Genet 2021, 22: 24.
  391. Verdoni A, Hu J, Surti U, Babcock M, Sheehan E, Clemens M, Drewes S, Walsh L, Clark R, Katari S, Sanfilippo J, Saller DN, Rajkovic A, Yatsenko SA.
    Reproductive outcomes in individuals with chromosomal reciprocal translocations.
    Genet Med. 2021 Sep;23(9):1753-1760.
  392. Manju HC, Bevinakoppamath S, Bhat D, Prashant A, Kadandale JS, Sairam PVVG.
    Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)-case report.
    Mol Cytogenet. 2022 Mar 26;15(1):14.
  393. Cui W, Liu X, Zhang Y, Wang Y, Chu G, He R, Zhao Y.
    Evaluation of non-invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort.
    J Cell Mol Med. 2019 Nov;23(11):7873-7878.
  394. Serra G, Giambrone C, Antona V, Cardella F, Carta M, Cimador M, Corsello G, Giuffrè M, Insinga V, Maggio MC, Pensabene M, Schierz IAM, Piro E.
    Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.
    Ital J Pediatr. 2022 Sep 8;48(1):170.
  395. Gaspar NS, Rocha G, Grangeia A, Soares HC.
    Cat-Eye syndrome: A report of two cases and literature review.
    Cureus. 2022 Jun 25;14(6):e26316.
  396. Wu X, Su L, Shen Q, Guo Q, Li Y, Xu S, Lin N, Huang H, Xu L.
    Chromosomal abnormalities and pregnancy outcomes for fetuses with gastrointestinal tract obstructions.
    Front Pediatr. 2022 Jun 6;10:918130. Erratum in: Front Pediatr. 2022 Oct 26;10:976997.
  397. Kozlova A, DeMaria LN, Tran AQ, North VS, Belinsky I.
    Congenital eyelid imbrication and floppy eyelid syndrome in a patient with cat eye syndrome.
    Ophthalmic Plast Reconstr Surg. 2022 Mar-Apr 01;38(2):e36-e38.
  398. Piwowarczyk P, Massalska D, Obodzińska I, Gawlik Zawiślak S, Bijok J, Kucińska-Chahwan A, Roszkowski T.
    Prenatal diagnosis of Emanuel syndrome - case series and review of the literature.
    J Obstet Gynaecol. 2022 Sep 1:1-6.
  399. Hao X, Wu J, Fu W, Zhang R, Zhong S, Deng Y, Zhu Y, Ye Y, Fang Q.
    Prenatal diagnosis of fetuses with Emanuel syndrome: Results of ultrasound examination and invasive genetic testing.
    Prenat Diagn. 2022 Apr;42(4):469-477.
  400. Adams LE, Chapman A, Cormack CL, Campbell K, Ebanks AH, Annibale DJ, Hollinger LE.
    Emanuel syndrome and congenital diaphragmatic hernia: A systematic review.
    J Pediatr Surg. 2022 Sep;57(9):24-28.
  401. Wang Y, Lazier J, Myles-Reid D, Noor A, Chitayat D, Greenfeld E.
    Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.
    Clin Case Rep. 2023 Apr 23;11(4):e6632.
  402. Wang Y, Zhang P, Chai Y, Zang W.
    Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family.
    Mol Cytogenet. 2023 Oct 25;16(1):28.
  403. Lu Y, Shen L, Zheng Y, Zhang H, Liu Y, Qi M, Huang S, Shen B.
    A Chinese family with cat eye syndrome and abnormality of eye movement: First case report.
    Front Pediatr. 2023 Apr 11;11:1145183.
  404. Mansur M, Jacob TJ, Wong H, Tarascin I.
    Cat eye syndrome with a unique liver and dermatological presentation.
    Cureus. 2023 Apr 4;15(4):e37142.
  405. Spineli-Silva S, Monlleó IL, Félix TM, Gil-da-Silva-Lopes VL, Vieira TP.
    Overlapping spectrum of craniofacial microsomia phenotype in cat-eye syndrome.
    Cleft Palate Craniofac J.  2024 Sep;61(9):1578-1585.
  406. Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck-Thambo C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G.
    Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
    Am J Med Genet A. 2024 Apr;194(4):e63476.
  407. Soster E, Dyr B, Caldwell S, Sussman A, Magharyous H.
    Prenatal cfDNA screening for Emanuel syndrome and other unbalanced products of conception in carriers of the recurrent balanced translocation t(11;22): One laboratory's retrospective experience.
    Genes (Basel). 2023 Oct 10;14(10):1924.
  408. Burgos CM, Gupta VS, Conner P, Frenckner B, Lally KP, Ebanks AH, Harting MT; Congenital Diaphragmatic Hernia Study Group.
    Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.
    Prenat Diagn. 2023 Sep;43(10):1265-1273.
  409. Cilio Arroyuelo M, Tenorio-Castano J, García-Moya LF, Parra A, Cazalla M, Gallego N, Miranda L, Mori MÁ, García-Gueretta L, Labrandero C, Mansilla E, Rikeros E, García-Santiago F, Vallcorba I, Arias P, Silván C, Deiros Bronte L, Nevado J, Lapunzina P.
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  410. Xu L, Cheng X, Tang L, Min S, Wu J, Zhu H, Liao Y.
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  411. Hu J, Wang M, Xiang R.
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  412. Joksic I, Toljic M, Milacic I, Stankovic A, Karadzov Orlic N, Mikovic Z.
    Small supernumerary marker chromosomes in prenatal diagnosis-molecular characterization and clinical outcomes.
    Front Genet. 2024 Jan 8;14:1326985.
  413. Jiang X, Liang B, Chen B, Wu X, Wang Y, Lin N, Huang H, Xu L.
    Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.
    Chromosome Res. 2024 Jul 19;32(3):9.