ChromosOmics - Database

Icon by Leon Liehr              

                                                             - REFERENCES -                                                        

      0. Liehr et al. unpublished data
  1. Liehr T. 2014. Benign & Pathological Chromosomal Imbalances, 1st Edition Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling. Academic Press. ISBN : 9780124046313;
    for all references from this book see here
  2. Fluorescence in situ Hybridization (FISH) – Application Guide, T Liehr (Editor), 2nd Ed., Springer, Berlin, 2017, ISBN: 978-3662529577
  3. Smith A, Fraser IS, Elliott G. An infertile male with balanced Y;19 translocation. Review of Y;autosome translocations. Ann Genet. 1979;22(4):189-194.
  4. Wilkinson TA, Crolla JA. Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes. Hum Genet. 1993 May;91(4):389-91.
  5. Knight SJ, Flint J. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet. 2000 Jun;37(6):401-9.
  6. Hancke I, Miller K.
    Familial occurrence of a pseudodicentric chromosome 21.
    J Med Genet 1985 Apr;22(2):155-6.
  7. Ramos S, Alcántara MA, Molina B, del Castillo V, Sánchez S, Frias S.
    Acrocentric cryptic translocation associated with nondisjunction of chromosome 21.
    Am J Med Genet A. 2008 Jan 1;146A(1):97-102.
  8. Cockwell AE, Jacobs PA, Beal SJ, Crolla JA.
    A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities.
     Hum Genet. 2003 Mar;112(3):298-302.
  9. Reddy KS, Sulcova V.
    The mobile nature of acrocentric elements illustrated by three unusual chromosome variants.
    Hum Genet    . 1998 Jun;102(6):653-62.
  10. Stetten G, Sroka B, Schmidt M, Axelman J, Migeon BR.
    Translocation of the nucleolus organizer region to the human X chromosome.
    Am J Hum Genet    . 1986 Aug;39(2):245-52.
  11. Polityko AD, Khurs OM, Kulpanovich AI, Mosse KA, Solntsava AV, Rumyantseva NV, Naumchik IV, Liehr T, Weise A, Mkrtchyan H.
    Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.
     Eur J Med Genet. 2009 Jul-Aug;52(4):207-10.
  12. Lin CL, Gibson L, Pober B, Yang-Feng TL.
    A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation.
    Hum Genet    . 1995 Nov;96(5):585-8.
  13. Habibian R, Hajianpour MJ, Shaffer LG, Niedenard L, Hajianpour AK.
    Geneotype-phenotype correlation in satellited 1p chromosome: Importance of fluorescence in situ hybridization (FISH) applicatiomns.
    Am J Hum Genet. 1994;55(Suppl.),A106.
  14. Bucksch M, Ziegler M, Kosayakova N, Mulatinho MV, Llerena JC Jr, Morlot S, Fischer W, Polityko AD, Kulpanovich AI, Petersen MB, Belitz B, Trifonov V, Weise A, Liehr T, Hamid AB.
    A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH.
     J Histochem Cytochem. 2012 Jul;60(7):530-6. 
  15. Park VM, Gustashaw KM, Wathen TM.
    The presence of interstitial telomeric sequences in constitutional chromosome abnormalities.
    Am J Hum Genet    . 1992 May;50(5):914-23.
  16. Bauld R, Ellis PM.
    A satellited chromosome 2.
    J Med Genet. 1984;21:54.
  17. Elliot J, Barnes ICS.
    A satellited chromosome 2 detected at prenatal diagnosis.
    J Med Genet. 1992; 29:213.
  18. Lamb AN, Pettanati M, Hanna J, Krasikov N, Neu R, Rao N, Weinstein M, Weiser J, Estabrooks L.
    Six cases of satellited long arm of chromosome 2 detected during prenatal chromosome diagnosis.
    Am J Hum Genet. 1995; 57 (Suppl.):A282.
  19. Estabrooks LL, Lamb AN, Kirkman HN, Callanan NP, Rao KW.
    A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.
    Am J Hum Genet    . 1992 Nov;51(5):971-8.
  20. Arn PH, Younie L, Russo S, Zackowski JL, Mankinen C, Estabrooks L.
    Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature.
    Am J Med Genet    . 1995 Jul 3;57(3):420-4.
  21. Babu VR, Roberson JR, Van Dyke DL, Weiss L.
    Interstitial deletion of 4q35 in a familial satellited 4q in a child with developmental delay.
    Am J Hum Genet. 1987;41(Suppl.):113.
  22. Miller I, Songster G, Fontana S, Hsieh CL.
    Satellited 4q identified in amniotic fluid cells.
    Am J Med Genet    . 1995 Jan 16;55(2):237-9.
  23. Shah HA, Verma RS, Conte RA, Chester M, Shklovskaya TV, Kleymann SM, Diaz-Barrios V, Feldman B, Lin JH, Serman J.
    Fishing for the origin of satellite on the long arm of chromosome 4.
    Am J Hum Genet. 1997;61(Suppl.):A375.
  24. Zaslav AL, Pierno G, Fougner A, Jacob J, Shikora G, Kazi R, Blumenthal D, Alexander F, Fox JE.
    Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4.
    Am J Med Genet A    . 2004 May 1;126A(4):420-2.
  25. Guttenbach M, Nassar N, Feichtinger W, Steinlein C, Nanda I, Wanner G, Kerem B, Schmid M.
    An interstitial nucleolus organizer region in the long arm of human chromosome 7: cytogenetic characterization and familial segregation.
    Cytogenet Cell Genet    . 1998;80(1-4):104-12.
  26. Storto PD, Diehn TN, O'Malley DP, Bullard BA, Netzloff ML, VanDyke DL, Feldman GL, Precht KS, Ledbetter DH, Lese CM.
    Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent.
     Prenat Diagn. 1999 Nov;19(11):1088-9.
  27. Willatt L, Green AJ, Trump D.
    Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: a new variant without phenotypic effect.
     J Med Genet. 2001 Oct;38(10):723-7.
  28. Verma RS, Ved Brat S, Warman J, Dosik H.
    Clinical significance of the satellited short arm of human chromosome 17 (17ps +) : a rare heteromorphism?
    Ann Genet    . 1979;22(3):133-6.
  29. Patil SR, Bent FC.
    Silver staining and the 17ps chromosome.
    Clin Genet    . 1980 Apr;17(4):281-4.
  30. Killos LD, Lese CM, Mills PL, Precht KS, Stanley WS, Ledbetter DH. A satellited 17p with telomere deleted and no apparent clinical consequences. Am J Hum Genet. 1997;61(Suppl.)A130.
  31. Park JP, Rawnsley BE.
    Prenatal detection of chromosome 20 variants (20ph+, 20ps)
     Prenat Diagn. 1996 Aug;16(8):771-4. 
  32. Pimentel D, Alonso P, Abrisqueta JA.
    Unusual chromosome 20 anomaly arising "de novo" to give dic(20)qs.
    Hum Genet. 1989 Dec;84(1):97-8.
  33. Prieto F, Badía L, Beneyto M, Palau F.
    Nucleolus organizer regions (NORs) inserted in 6q15.
    Hum Genet    . 1989 Feb;81(3):289-90.
  34. Guttenbach M, Haaf T, Steinlein C, Caesar J, Schinzel A, Schmid M.
    Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families.
    J Med Genet    . 1999 Apr;36(4):339-42.
  35. Cosper R, Hicks LC, Finley SC, Davis RO, Caroll AJ.
    Familial insertion of nucleolar organizer regions and cenromere material into the long arm of chromosome 11.
    Am J Hum Genet. 1985;37:A89.
  36. Watt JL, Couzin DA, Lloyd DJ, Stephen GS, McKay E.
    A familial insertion involving an active nucleolar organiser within chromosome 12.
    J Med Genet    . 1984 Oct;21(5):379-84.
  37. Norris FM, Mercer B, Pertile MD.
    Interstitial insertion of NORs into Yq and 22q. two case studies.
    Bull Hum Genet Soc Australis 1995;8:48.
  38. Chen CP, Chern SR, Lee CC, Chen WL, Wang W.
    Prenatal diagnosis of interstitially satellited 6p.
    Prenat Diagn    . 2004 Jun;24(6):430-3.
  39. Fickelscher I, Liehr T, Watts K, Bryant V, Barber JC, Heidemann S, Siebert R, Hertz JM, Tumer Z, Simon Thomas N.
    The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.
     Am J Hum Genet. 2007 Oct;81(4):847-56.
  40. Balkan W, Burns K, Martin RH.
    Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 3.
    Cytogenet Cell Genet    . 1983;35(4):295-7.
  41. Lindberg L, Pelto K, Borgström GH.
    Familial pericentric inversion (3)(p12q24).
    Hum Genet    . 1992 Jun;89(4):433-6.
  42. Bardhan S, Singh DN, Davis K.
    Polymorphism in chromosome 4.
    Clin Genet    . 1981 Jul;20(1):44-7.
  43. Callen DF, Eyre HJ, Ringenbergs ML.
    A dicentric variant of chromosome 6: characterization by use of in situ hybridisation with the biotinylated probe p308.
    Clin Genet    . 1990 Feb;37(2):81-3.
  44. Fineman RM, Issa B, Weinblatt V.
    Prenatal diagnosis of a large heteromorphic region in a chromosome 5: implications for genetic counseling.
    Am J Med Genet    . 1989 Apr;32(4):498-9.
  45. Doneda L, Gandolfi P, Nocera G, Larizza L.
    A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences.
    Chromosome Res    . 1998 Aug;6(5):411-4.
  46. Kosyakova N, Grigorian A, Liehr T, Manvelyan M, Simonyan I, Mkrtchyan H, Aroutiounian R, Polityko AD, Kulpanovich AI, Egorova T, Jaroshevich E, Frolova A, Shorokh N, Naumchik IV, Volleth M, Schreyer I, Nelle H, Stumm M, Wegner RD, Reising-Ackermann G, Merkas M, Brecevic L, Martin T, Rodríguez L, Bhatt S, Ziegler M, Kreskowski K, Weise A, Sazci A, Vorsanova S, Cioffi Mde B, Ergul E. Heteromorphic variants of chromosome 9.
    Mol Cytogenet. 2013 Apr 1;6(1):14.
  47. Vust A, Riordan D, Wickstrom D, Chudley AE, Dawson AJ.
    Functional mosaic trisomy of 1q12-->1q21 resulting from X-autosome insertion translocation with random inactivation.
     Clin Genet. 1998 Jul;54(1):70-3.
  48. Lapidot-Lifson Y, Lebo RV, Flandermeyer RR, Chung JH, Golbus MS.
    Rapid aneuploid diagnosis of high-risk fetuses by fluorescence in situ hybridization.
    Am J Obstet Gynecol    . 1996 Mar;174(3):886-90.
  49. Acar H, Yildirim MS, Kaynak M.
    Reliability and efficiency of interphase-fish with alpha-satellite probe for detection of aneuploidy.
    Genet Couns    . 2002;13(1):11-7.
  50. Verlinsky Y, Ginsberg N, Chmura M, Freidine M, White M, Strom C, Kuliev A. Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by FISH. Prenat Diagn. 1995 Sep;15(9):831-4.
  51. Blancato JK.
    Re: Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common aneuploidies by FISH.
     Prenat Diagn. 1996 Aug;16(8):769-70. 
  52. Tardy EP, Tóth A.
    Cross-hybridization of the chromosome 13/21 alpha satellite DNA to chromosome 22 or a rare polymorphism?
     Prenat Diagn. 1997 May;17(5):487-8.
  53. Bartsch O, König U, Petersen MB, Poulsen H, Mikkelsen M, Palau F, Prieto F, Schwinger E.
    Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome.
    Hum Genet    . 1993 Sep;92(2):127-32.
  54. Tepperberg J, Pettenati MJ, Rao PN, Lese CM, Rita D, Wyandt H, Gersen S, White B, Schoonmaker MM.
    Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature.
    Prenat Diagn. 2001 Apr;21(4):293-301.
  55. Musilova P, Rybar R, Oracova E, Veselá K, Rubes J.
    Hybridization of the 18 alpha-satellite probe to chromosome 1 revealed in PGD.
    Reprod Biomed Online    . 2008 Nov;17(5):695-8.
  56. Collin A, Sladkevicius P, Soller M.
    False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite probe (D18Z1) to chromosome 2.
    Prenat Diagn. 2009 Dec;29(13):1279-81.
  57. Wei S, Siu VM, Decker A, Quigg MH, Roberson J, Xu J, Adeyinka A.
    False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite DNA probe (D18Z1) to the heterochromatic region of chromosome 9.
    Prenat Diagn. 2007 Nov;27(11):1064-6.
  58. Thangavelu M, Tepperberg JH, Hume J, Huang B.
    A 3.44 MB interstitial duplication of chromosome 3 with no apparent phenotype detected by SNP array.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1257T.
  59. Winsor EJ, Dyack S, Wood-Burgess EM, Ryan G.
    Risk of false-positive prenatal diagnosis using interphase FISH testing: hybridization of alpha-satellite X probe to chromosome 19.
    Prenat Diagn    . 1999 Sep;19(9):832-6.
  60. Liehr T, Beensen V, Hauschild R, Ziegler M, Hartmann I, Starke H, Heller A, Kähler C, Schmidt M, Reiber W, Hesse M, Claussen U.
    Pitfalls of rapid prenatal diagnosis using the interphase nucleus.
     Prenat Diagn. 2001 May;21(5):419-21.
  61. Sala E, Villa N, Crosti F, Miozzo M, Perego P, Cappellini A, Bonazzi C, Barisani D, Dalprà L.
    Endometrioid-like yolk sac and Sertoli-Leydig cell tumors in a carrier of a Y heterochromatin insertion into 1qh region: a causal association?
    Cancer Genet Cytogenet    . 2007 Mar;173(2):164-9.
  62. Ashton-Prolla P, Gershin IF, Babu A, Neu RL, Zinberg RE, Willner JP, Desnick RJ, Cotter PD.
     Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin.
    Am J Med Genet    . 1997 Dec 31;73(4):470-3.
  63. Rahman MM, Bashamboo A, Prasad A, Pathak D, Ali S.
    Organizational variation of DYZ1 repeat sequences on the human Y chromosome and its diagnostic potentials.
    DNA Cell Biol    . 2004 Sep;23(9):561-71.
    --------
  64. Weise A, Belitz B, Pfeiffer L, Claussen U, Liehr T.
    Deletion 2p12-2p11.2 without abnormal clinical findings detected over three generations.
    MedGen. 2002;14:284 (Abstract P1-0412)
  65. Mölter-Väär T, Zorjanova T, Kuuse K, Tiidema A, Kurvinen E, Verhovtsova P, Visamaa A, Josost K.
    Unusually large familial euchromatic variant 16p11.2 discovered at amniocentesis. a case report.
    Chromosome Res (2015) 23(Suppl 1):S112 (Abstract 3.P9)
  66. Clark OA, Uzuner SY, Nur B, Mihci E, Karauzum SB, Cetin Z.
    A familial interstitial 4q35 deletion with no discernible clinical effect.
    Chromosome Res (2015) 23(Suppl 1):S151-52 (Abstract 1.P36)
  67. Bonaglia MC, Marelli S, Gottardi G, Zucca C, Pramparo T, Giorda R, Grasso R, Borgatti R, Zuffardi O.
    Subtelomeric trisomy 21q: a new benign chromosomal variant.
     Eur J Med Genet. 2007 Jan-Feb;50(1):54-9.
  68. Balikova I, Menten B, de Ravel T, Le Caignec C, Thienpont B, Urbina M, Doco-Fenzy M, de Rademaeker M, Mortier G, Kooy F, van den Ende J, Devriendt K, Fryns JP, Speleman F, Vermeesch JR.
    Subtelomeric imbalances in phenotypically normal individuals.
     Hum Mutat. 2007 Oct;28(10):958-67.
  69. Arnemann J, Schnittger S, Hinkel GK, Tolkendorf E, Schmidtke J, Hansmann I.
     A sterile male with 45,X0 and a Y;22 translocation.
    Hum Genet. 1991 Jun;87(2):134-8.
  70. Disteche CM, Brown L, Saal H, Friedman C, Thuline HC, Hoar DI, Pagon RA, Page DC.
     Molecular detection of a translocation (Y;15) in a 45,X male.
    Hum Genet    . 1986 Dec;74(4):372-7.
  71. Barber JC.
    Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.
    J Med Genet 2005; 42:609–629.
  72. Bonaglia MC, Giorda R, Beri S, Peters GB, Kirk EP, Hung D, Ciccone R, Gottardi G, Zuffardi O.
     Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.
    Eur J Med Genet. 2008 Mar-Apr;51(2):148-55.
  73. Bonaglia MC, Giorda R, Cavallini A, Pramparo T, Rocchi M, Borgatti R, Zuffardi O.
     Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?
    J Med Genet. 2003 Aug;40(8):e94.
  74. Ballif BC, Kashork CD, Shaffer LG.
    The promise and pitfalls of telomere region-specific probes.
     Am J Hum Genet. 2000 Nov;67(5):1356-9.
  75. Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.
     Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.
    Hum Genet    . 2001 Sep;109(3):286-94.
  76. Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH.
     "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
    J Med Genet    . 2002 Oct;39(10):734-40.
  77. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL.
    Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.
     J Med Genet. 2006 Jun;43(6):478-89.
  78. Chen CP, Chern SR, Chen YN, Chen SW, Wu PS, Yang CW, Lee CC, Lee MS, Pan CW, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality.
     Taiwan J Obstet Gynecol. 2017 Apr;56(2):217-223.
  79. Knijnenburg J, Uytdewilligen MEW, van Hassel DACM, Oostenbrink R, Eussen BHJ, de Klein A, Brooks AS, van Zutven LJCM.
    Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.
    Eur J Med Genet. 2017 Sep;60(9):445-450.
  80. Bateman MS, Collinson MN, Bunyan DJ, Collins AL, Duncan P, Firth R, Harrison V, Homfray T, Huang S, Kirk B, Lachlan KL, Maloney VK, Barber JCK.
     Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.
    Am J Med Genet A. 2018 Feb;176(2):319-329.
  81. Stumm M, Müsebeck J, Tönnies H, Volleth M, Lemke J, Chudoba I, Wieacker P.
    Partial trisomy 9p12p21.3 with a normal phenotype.
     J Med Genet 2002;39:141-144.
  82. Padutsch N, Liehr T.
    First report on a 20qh+ heteromorphism characterized by molecular cytogenetics as amplification of D20Z1 sequences.
    Research Results in Biomedicine 2019, 5:22-24.
  83. Fonseca AC, Bonaldi A, Fonseca SA, Otto PA, Kok F, Bak M, Tommerup N, Vianna-Morgante AM.
    The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
    Mol Cytogenet    . 2015 Dec 30;8:106.
  84. Wilson A, Watt K, Ma S.
    The incidence of long heterochromatic polymorphism variants in infants conceived through assisted reproductive technologies.
    Reprod Biomed Online    . 2017 Aug;35(2):219-224.
  85. Leach NT, Chudoba I, Stewart TV, Holmes LB, Weremowicz S.
    Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome.
    Am J Med Genet A. 2007 Jul 1;143A(13):1489-93.
  86. Passarge E.
    Emil Heitz and the concept of heterochromatin: longitudinal chromosome differentiation was recognized fifty years ago.
    Am J Hum Genet    . 1979 Mar;31(2):106-15.
  87. Pearson PL, Geraedts JPM, Van der Linden AGJM.
    Human chromosome polymorphism.
    In: Modern Aspects of Cytogenetics: Constitutive Heterochromatin in Man. Chairman Prof. Dr. R.A. Pfeiffer. Symposia Medica Hoechst. Symposium Schloß Reinhartshausen/Rhein; June 18-20 1972, pp 201-213.
  88. Ershova ES, Malinovskaya EM, Konkova MS, Veiko RV, Umriukhin PE, Martynov AV, Kutsev SI, Veiko NN, Kostyuk SV.
    Copy number variation of human satellite III (1q12) with aging.
    Front Genet. 2019 Aug 7;10:704.
  89. Sawyer JR, Tian E, Heuck CJ, Johann DJ, Epstein J, Swanson CM, Lukacs JL, Binz RL, Johnson M, Sammartino G, Zangari M, Davies FE, van Rhee F, Morgan GJ, Barlogie B.
    Evidence of an epigenetic origin for high-risk 1q21 copy number aberrations in multiple myeloma.
    Blood    . 2015 Jun 11;125(24):3756-9.
  90. Farra C, Raimondi S, Abboud M.
    Acquired centromeric heteromorphism of chromosome 7 yields discordant results between fluorescent in situ hybridization and karyotype analysis in a child with severe congenital neutropenia.
    Pediatr Hematol Oncol. 2019 Oct;36(7):432-437.
  91. Sismani C, Rapti SM, Iliopoulou P, Spring A, Neroutsou R, Lagou M, Robola M, Tsitsopoulos E, Kousoulidou L, Alexandrou A, Papaevripidou I, Theodosiou A, Syrrou M, Fuchs S, Hempel M, Huhle D, Liehr T, Ziegler M, Duesberg M, Velissariou V.
    Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.
    J Hum Genet. 2020 Sep;65(9):783-795.
  92. Inan C, Sayin NC, Dolgun ZN, Gurkan H, Erzincan SG, Uzun I, Sutcu H, Ates S, Atli E, Varol F.
    Prenatal diagnosis of chromosomal polymorphisms: most commonly observed polymorphism on chromosome 9 have associations with low PAPP-A values.
    J Matern Fetal Neonatal Med. 2019 May;32(10):1688-1695.
  93. Yu Y, Jiang Y, Hu X, Zhang H, Liu R, Wang R.
    Two-generation transmission of trisomy 18p: Prenatal diagnosis in a woman with mild intellectual disability.
    Cytogenet Genome Res. 2019;157(4):220-226.
  94. Rawal L, Kumar S, Mishra SR, Lal V, Bhattacharya SK.
    Clinical Manifestations of chromosomal anomalies and polymorphic variations in patients suffering from reproductive failure.
    J Hum Reprod Sci. 2020 Jul-Sep;13(3):209-215.
  95. Weiss CV, Harshman L, Inoue F, Fraser HB, Petrov DA, Ahituv N, Gokhman D.
    The cis-regulatory effects of modern human-specific variants.
    Elife. 2021 Apr 22;10:e63713
  96. Singer S, Gazou A, Sturm M, Demidov G, Mazzola P, Riess O, Ossowski S, Dufke A.
    New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.
    Am J Med Genet A. 2021;185(10):3053-3056..
  97. Ramos S, Rodríguez R, Castro O, Grether P, Molina B, Frias S.
    Presence of 15p marker D15Z1 on the short arm of acrocentric chromosomes is associated with aneuploid offspring in Mexican Couples.
    Int J Mol Sci. 2019 Oct 23;20(21):5251.
  98. Redaelli S, Conconi D, Villa N, Sala E, Crosti F, Corti C, Catusi I, Garzo M, Romitti L, Martinoli E, Patrizi A, Malgara R, Recalcati MP, Dalprà L, Lavitrano M, Riva P, Roversi G, Bentivegna A.
    Instability of short arm of acrocentric chromosomes: Lesson from non-acrocentric satellited chromosomes. Report of 24 unrelated cases.
    Int J Mol Sci. 2020 May 13;21(10):3431.
  99. Estabrooks LL, Lamb AN, Kirkman HN, Callanan NP, Rao KW.
    A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.
    Am J Hum Genet. 1992 Nov;51(5):971-8.
  100. Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB.
    Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
    Am J Med Genet A 2011; 155A:2841–2854.
  101. Lucas M, Wallace I, Hirschhorn K.
    Recurrent abortions and chromosome abnormalities.
    J Obstet Gynaecol Br Commonw. 1972 Dec;79(12):1119-27.
  102. Weise A, Starke H, Heller A, Tönnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T.
    Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes.
    J Med Genet. 2002 Jun;39(6):434-9. 
  103. Fuchs S, Lisfeld J, Kankel S, Person L, Liehr T.
    The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases.
    Hum Genome Var. 2021 Jul 28;8(1):32.
  104. Abdulazeez M, Kankel S, Liehr T.
    About the origin of the acrocentric part of non-acrocentric satellited chromosomes in humans.
    Research Results Biomedicine 2021, 7:215-219.
  105. Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Lee CC, Pan CW, Wang W.
    Prenatal diagnosis of a familial 9p12 amplification inherited from a father carrier.
    Taiwan J Obstet Gynecol. 2021 Sep;60(5):905-906.
  106. Liehr T.
    Repetitive elements in humans.
    Int J Mol Sci. 2021 Feb 19;22(4):2072.
  107. Liehr T.
    Molecular cytogenetics in the era of chromosomics and cytogenomic approaches.
    Front Genet. 2021 Oct 13;12:720507.
  108. Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, Vollger MR, Altemose N, Uralsky L, Gershman A, Aganezov S, Hoyt SJ, Diekhans M, Logsdon GA, Alonge M, Antonarakis SE, Borchers M, Bouffard GG, Brooks SY, Caldas GV, Chen NC, Cheng H, Chin CS, Chow W, de Lima LG, Dishuck PC, Durbin R, Dvorkina T, Fiddes IT, Formenti G, Fulton RS, Fungtammasan A, Garrison E, Grady PGS, Graves-Lindsay TA, Hall IM, Hansen NF, Hartley GA, Haukness M, Howe K, Hunkapiller MW, Jain C, Jain M, Jarvis ED, Kerpedjiev P, Kirsche M, Kolmogorov M, Korlach J, Kremitzki M, Li H, Maduro VV, Marschall T, McCartney AM, McDaniel J, Miller DE, Mullikin JC, Myers EW, Olson ND, Paten B, Peluso P, Pevzner PA, Porubsky D, Potapova T, Rogaev EI, Rosenfeld JA, Salzberg SL, Schneider VA, Sedlazeck FJ, Shafin K, Shew CJ, Shumate A, Sims Y, Smit AFA, Soto DC, Sović I, Storer JM, Streets A, Sullivan BA, Thibaud-Nissen F, Torrance J, Wagner J, Walenz BP, Wenger A, Wood JMD, Xiao C, Yan SM, Young AC, Zarate S, Surti U, McCoy RC, Dennis MY, Alexandrov IA, Gerton JL, O'Neill RJ, Timp W, Zook JM, Schatz MC, Eichler EE, Miga KH, Phillippy AM.
    The complete sequence of a human genome.
    Science. 2022 Apr;376(6588):44-53.
  109. Altemose N, Logsdon GA, Bzikadze AV, Sidhwani P, Langley SA, Caldas GV, Hoyt SJ, Uralsky L, Ryabov FD, Shew CJ, Sauria MEG, Borchers M, Gershman A, Mikheenko A, Shepelev VA, Dvorkina T, Kunyavskaya O, Vollger MR, Rhie A, McCartney AM, Asri M, Lorig-Roach R, Shafin K, Lucas JK, Aganezov S, Olson D, de Lima LG, Potapova T, Hartley GA, Haukness M, Kerpedjiev P, Gusev F, Tigyi K, Brooks S, Young A, Nurk S, Koren S, Salama SR, Paten B, Rogaev EI, Streets A, Karpen GH, Dernburg AF, Sullivan BA, Straight AF, Wheeler TJ, Gerton JL, Eichler EE, Phillippy AM, Timp W, Dennis MY, O'Neill RJ, Zook JM, Schatz MC, Pevzner PA, Diekhans M, Langley CH, Alexandrov IA, Miga KH.
    Complete genomic and epigenetic maps of human centromeres.
    Science. 2022 Apr;376(6588):eabl4178.
  110. Han M, Wei L, Liu F, Gao X.
    Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype.
    Mol Cytogenet. 2022 Mar 24;15(1):12.
  111. Luo H, Liu L, Feng Y.
    Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome.
    Mol Cytogenet. 2022 Mar 26;15(1):13.
  112. Song J, Jiang W, Zhang C, Wang B.
    Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype.
    Mol Cytogenet. 2022 Jun 3;15(1):21.
  113. Tang W, Chen G, Xia J, Zhang Y.
    Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family.
    Mol Cytogenet. 2022 Jul 4;15(1):28.
  114. Chen J, Zhang Y, Zhang M.
    Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family.
    Mol Cytogenet. 2022 Sep 1;15(1):38.
  115. Dey BK, Ghosh S, Halder A, Chakraborty S, Roy S.
    Heterochromatin extension: a possible cytogenetic fate of primary amenorrhea along with normal karyotype.
    J Obstet Gynaecol. 2022 Aug;42(6):2314-2319.
  116. Miga KH.
    Centromeric satellite DNAs: Hidden sequence variation in the human population.
    Genes (Basel). 2019 May 8;10(5):352.
  117. Yu S, Lemos B.
    A portrait of ribosomal DNA contacts with Hi-C reveals 5S and 45S rDNA anchoring points in the folded human genome.
    Genome Biol Evol. 2016 Dec 31;8(11):3545-3558.
  118. Uzun I, Has R, Alici E, Ozdemir M, Inan C, Erzincan S.
    Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion.
    Balkan J Med Genet. 2016 Aug 2;19(1):103-106.
  119. Chen CP, Chern SR, Wu PS, Chen SW, Wu FT, Chen WL, Wang W.
    Application of array comparative genomic hybridization analysis for rapid differential diagnosis of a chromosome euchromatic variant of dup 22q13.3 at amniocentesis.
    Taiwan J Obstet Gynecol. 2021 Nov;60(6):1134-1135.
  120. Trost B, Loureiro LO, Scherer SW.
    Discovery of genomic variation across a generation.
    Hum Mol Genet. 2021 Oct 1;30(R2):R174-R186.
  121. Chen CP, Ko TM, Huang JP, Chern SR, Wu PS, Chen SW, Wu FT, Chen WL, Lee MS, Wang W.
    Prenatal diagnosis of a familial normal euchromatic variant of dup(15)(q11.2q11.2) in a pregnancy with a favorable outcome.
    Taiwan J Obstet Gynecol. 2020 Sep;59(5):770-772.
  122. Zhang Y, Chen J, Feng Z, Li W.
    Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family.
    Mol Cytogenet. 2022 Aug 15;15(1):34.
  123. Pazooki M, Lebbar A, Roubergues A, Baverel F, Letessier D, Dupont JM.
    Pure familial 6q21q22.1 duplication in two generations.
    Eur J Med Genet. 2007 Jan-Feb;50(1):60-5.
  124. Li C, Luo W, Xiao T, Yang X, Ou M, Zhang L, Huang X, Zhu X.
    Case report: Genetic analysis of a small supernumerary marker chromosome in a unique case of mosaic Turner syndrome.
    Front Pediatr. 2022 Feb 18;10:799284.
  125. Mottola F, Santonastaso M, Ronga V, Finelli R, Rocco L.
    Polymorphic rearrangements of human chromosome 9 and male infertility: New evidence and impact on spermatogenesis.
    Biomolecules. 2023 Apr 23;13(5):729.
  126. Tyson C, Sharp AJ, Hrynchak M, Yong SL, Hollox EJ, Warburton P, Barber JC.
    Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.
    Eur J Hum Genet. 2014 Apr;22(4):458-63.
  127. Carelle-Calmels N, Girard-Lemaire F, Guérin E, Bieth E, Rudolf G, Biancalana V, Pecheur H, Demil H, Schneider T, de Saint-Martin A, Caron O, Legrain M, Gaston V, Flori E.
    Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.
    Eur J Med Genet. 2008 Nov-Dec;51(6):547-57.
  128. Joseph-George AM, He Y, Marshall CR, Wong RC, MacDonald JR, Fahey CA, Chitayat D, Chun K, Ryan G, Summers AM, Winsor EJ, Scherer SW.
    Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions.
    J Med Genet. 2011 May;48(5):317-22.
  129. López Pajares I, Villa O, Salido M, Mori MA, Gonzalez A, Lapunzina P, De Torres ML, Vallcorba I, Palomares M, Fernández L, Delicado A.
    Euchromatic variant 16p+. Implications in prenatal diagnosis.
    Prenat Diagn. 2006 Jun;26(6):535-8