ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for McClintock -                                                              

      0. Liehr et al. unpublished data
  1. Slater HR, Nouri S, Earle E, Lo AW, Hale LG, Choo KH.
    Neocentromere formation in a stable ring 1p32-p36.1 chromosome.
    J Med Genet. 1999 Dec;36(12):914-918.
  2. Saffery R, Irvine DV, Griffiths B, Kalitsis P, Wordeman L, Choo KH.
    Human centromeres and neocentromeres show identical distribution patterns of >20 functionally important kinetochore-associated proteins.
    Hum Mol Genet. 2000 Jan 22;9(2):175-185.
  3. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714.
  4. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  5. Marshall OJ, Chueh AC, Wong LH, Choo KH.
    Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.
    Am J Hum Genet. 2008 Feb;82(2):261-182.
  6. Higgins RR, Wright E, Baldinger S, Tschider E, Ahmad J, Schwartz S, Curtis CA.
    Neocentromere in a ring-shaped chromosome 1
    Am J Hum Genet. 2000; 67(Suppl.2):149.
  7. Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL.
    Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.
    Am J Med Genet A. 2005 Mar 1;133(2):180-183.
  8. Lasan Trcic R, Hitrec V, Letica L, Cuk M, Begovic D.
    Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization.
    Croat Med J. 2003 Aug;44(4):477-479.
  9. Petit P, Fryns JP.
    Interstitial deletion 2p accompanied by marker chromosome formation of the deleted segment resulting in a stable acentric marker chromosome.
    Genet Couns. 1997;8(4):341-343.
  10. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  11. Fryns JP, De Waele P, Van Den Berghe H.
    Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.
    Hum Genet. 1979 Oct 1;51(2):123-125.
  12. 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)
  13. Teshima I, Bawle EV, Weksberg R, Shuman C, Van Dyke DL, Schwartz S.
    Analphoid 3qter markers.
    Am J Med Genet. 2000 Sep 11;94(2):113-119.
  14. Ventura M, Weigl S, Carbone L, Cardone MF, Misceo D, Teti M, D'Addabbo P, Wandall A, Bjorck E, de Jong PJ, She X, Eichler EE, Archidiacono N, Rocchi M.
    Recurrent sites for new centromere seeding.
    Genome Res. 2004 Sep;14(9):1696-1703.
  15. Kotzot D, Krüger C, Braun-Quentin C.
    De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.
    Clin Genet. 1996 Aug;50(2):96-98.
  16. Warburton PC, Barwell J, Splitt M, Maxwell D, Bint S, Ogilvie CM.
    Class II neocentromeres: a putative common neocentromere site in band 4q21.2.
    Eur J Hum Genet. 2003 Oct;11(10):749-753.
  17. May LF, Works C, Lese Martin DH, Ledbetter DH.
    Marker chromosomes: new insights and worries.
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p157 (Abstractno. 773).
  18. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH.
    Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
    Am J Hum Genet. 2008 Feb;82(2):398-410.
  19. Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM.
    Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.
    Genet Med. 1999 Jul-Aug;1(5):213-218.
  20. Schuffenhauer S, Kobelt A, Daumer-Haas C, Loffler C, Muller G, Murken J, Meitinger T.
    Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen.
    <321 style="font-size:10.0pt;font-family:"Times New Roman"">Am J Med Genet. 1996 Oct 2;65(1):56-59.
  21. de Blois M, Sanlaville D, Bachelot A, Ozilou C, Chevallier S, Waill-Perrier MC, Romana S, Vekemans M, Turleau C.
    Stable ring chromosome 6 due to a centromeric fission.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 175  (Abstractnumber 877).
  22. 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
  23. Qin N, Bartley J, Wang J, Jogenson J, Warburton PE.
    A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6.
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p166 (Abstractno. 829)
  24. Qin N, Bartley J, Wang JC, Warburton PE.
    A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6.
    Cytogenet Genome Res. 2007;119(1-2):154-157.
  25. Burnside RD, Ibrahim J, Flora C, Schwartz S, Tepperberg JH, Papenhausen PR
    Interstitial Deletion of 8q in a girl from Unbalanced Segregation of a Paternal Deletion/ring Karyotype.
    ASHG 2009; abstract only online, information from poster.
  26. Depinet TW, Zackowski JL, Earnshaw WC, Kaffe S, Sekhon GS, Stallard R, Sullivan BA, Vance GH, Van Dyke DL, Willard HF, Zinn AB, Schwartz S.
    Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.
    Hum Mol Genet. 1997 Aug;6(8):1195-1204.
  27. Donlon TA, Bangs CD, Hsieh C-L, Hahn J, Hsia YE, Gregory T.
    Interstitial deletion of chromosome 12p in a patient caused by maternal ring formation.
    Am J Hum Genet. 1992; 51 (Suppl): A78.
  28. Amor DJ, Voullaire L, Bentley K, Savarirayan R, Choo KH.
    Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3.
    Am J Med Genet A. 2005 ;133(2):151-157.
  29. Knegt AC, Li S, Engelen JJ, Bijlsma EK, Warburton PE.
    Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletion.
    Prenat Diagn. 2003 Mar;23(3):215-220.
  30. Cardone MF, Alonso A, Pazienza M, Ventura M, Montemurro G, Carbone L, de Jong PJ, Stanyon R, D'Addabbo P, Archidiacono N, She X, Eichler EE, Warburton PE, Rocchi M.
    Independent centromere formation in a capricious, gene-free domain of chromosome 13q21 in Old World monkeys and pigs.
    Genome Biol. 2006;7(10):R91.
  31. Capozzi O, Purgato S, Verdun di Cantogno L, Grosso E, Ciccone R, Zuffardi O, Della Valle G, Rocchi M.
    Evolutionary and clinical neocentromeres: two faces of the same coin?
    Chromosoma. 2008 Aug;117(4):339-344.
  32. Voullaire LE, Slater HR, Petrovic V, Choo KH.
    A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere?
    Am J Hum Genet. 1993 Jun;52(6):1153-1163.
  33. du Sart D, Cancilla MR, Earle E, Mao JI, Saffery R, Tainton KM, Kalitsis P, Martyn J, Barry AE, Choo KH.
    A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA.
    Nat Genet. 1997 Jun;16(2):144-153.
  34. Barry AE, Bateman M, Howman EV, Cancilla MR, Tainton KM, Irvine DV, Saffery R, Choo KH.
    The 10q25 neocentromere and its inactive progenitor have identical primary nucleotide sequence: further evidence for epigenetic modification.
    Genome Res. 2000 Jun;10(6):832-838.
  35. Barry AE, Howman EV, Cancilla MR, Saffery R, Choo KH.
    Sequence analysis of an 80 kb human neocentromere.
    Hum Mol Genet. 1999 Feb;8(2):217-227.
  36. Saffery R, Wong LH, Irvine DV, Bateman MA, Griffiths B, Cutts SM, Cancilla MR, Cendron AC, Stafford AJ, Choo KH.
    Construction of neocentromere-based human minichromosomes by telomere-associated chromosomal truncation.
    Proc Natl Acad Sci U S A. 2001 May 8;98(10):5705-5710.
  37. Cancilla MR, Tainton KM, Barry AE, Larionov V, Kouprina N, Resnick MA, Sart DD, Choo KH.
    Direct cloning of human 10q25 neocentromere DNA using transformation-associated recombination (TAR) in yeast.
    Genomics. 1998 Feb 1;47(3):399-404.
  38. Koch J.
    Neocentromeres and alpha satellite: a proposed structural code for functional human centromere DNA.
    Hum Mol Genet. 2000 Jan 22;9(2):149-154.
  39. Maggert KA, Karpen GH.
    Acquisition and metastability of centromere identity and function: sequence analysis of a human neocentromere.
    Genome Res. 2000 Jun;10(6):725-728.
  40. Brown W, Tyler-Smith C.
    Centromere activation.
    Trends Genet. 1995 Sep;11(9):337-339.
  41. Mannens M, Hoovers JM, Bleeker-Wagemakers EM, Redeker E, Bliek J, Overbeeke-Melkert M, Saunders G, Williams B, van Heyningen V, Junien C, Haber D, Speleman F, Heyting C, Slater RM, Leschot NJ, Westerland A.
    The distal region of 11p13 and associated genetic diseases.
    Genomics. 1991 Oct;11(2):284-293.
  42. Warburton PE.
    Organization of kinetochore chromatin domains at human neocentromeres.
    ASHG 2009; abstract only online, information from talk.
  43. Krauss CM, Caldwell D, Atkins L.
    Interstitial deletion and ring chromosome derived from 16q.
    J Med Genet. 1987 May;24(5):308-312.
  44. Friedman JM, Harrod MJ, Howard-Peebles PN.
    Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment.
    Am J Med Genet. 1992 Sep 1;44(1):37-40.
  45. Rudd MK, Mays RW, Schwartz S, Willard HF.
    Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lag.
    Mol Cell Biol. 2003 Nov;23(21):7689-7697.
  46. Wevrick R, Earnshaw WC, Howard-Peebles PN, Willard HF.
    Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement.
    Mol Cell Biol. 1990 Dec;10(12):6374-6380.
  47. Andersen LB, Tommerup N, Koch J.
    Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis.
    Cytogenet Cell Genet. 1990;53(4):206-210.
  48. Quack B, Van Roy N, Verschraegen-Spae MR, Klein F.
    Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype.
    Ann Genet. 1992;35(4):241-244.
  49. 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)
  50. Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette MF, Mattei MG.
    Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
    J Med Genet. 1998 Nov;35(11):932-938.
  51. Cui YX, Wei L, Xia XY, Fan XB, Shi YC, Yao B, Ge YF, Li XJ, Huang YF.
    Meiotic pairing error in an infertile male bearing reciprocal deletion of chromosome 13: case report.
    J Androl. 2011 Sep-Oct;32(5):473-477.
  52. 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 May-Jun;54(3):292-294.
  53. Burnside RD, Ibrahim J, Flora C, Schwartz S, Tepperberg JH, Papenhausen PR, Warburton PE.
    Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22.
    Cytogenet Genome Res. 2011;132(4):227-232.
  54. Ohashi H, Suzumori K, Chisaka Y, Sonta S, Kobayashi T, Aoki Y, Matsubara Y, Sone M, Shaffer LG.
    Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5.
    Am J Med Genet A. 2011 Jan;155A(1):192-196.
  55. Vlckova M, Trkova M, Zemanova Z, Hancarova M, Novotna D, Raskova D, Puchmajerova A, Drabova J, Zmitkova Z, Tan Y, Sedlacek Z.
    Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing.
    Cytogenet Genome Res. 2012;136(1):15-20.
  56. Pfeiffer RA, Trautmann U, Hirmer-Stoll R.
    Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report.
    Ann Genet. 1991;34(3-4):247-251.
  57. Cui YX, Yang XY, Xia XY, Zhou Y, Chen YH, Hu YA.
    [Meiotic analysis of spermatogenic cells in severe oligoasthenoteratozoospermia with chromosome 13 rearrangement].
    Zhonghua Nan Ke Xue. 2012 Sep;18(9):793-796.
  58. 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.
  59. 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).
  60. Capalbo A, Sinibaldi L, Bernardini L, Spasari I, Mancuso B, Maggi E, Novelli A.
    Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis.
    Prenat Diagn. 2013 Aug;33(8):782-796.
  61. Alosi D, Klitten LL, Bak M, Hjalgrim H, Møller RS, Tommerup N.
    Dysregulation of FOXG1 by ring chromosome 14.
    Mol Cytogenet. 2015 Apr 9;8:24.
  62. Kumar MJ, Kumar RA, Subhashree V, Jayasudha T, Hemagowri V, Koshy T, Gowrishankar K.
    Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association.
    Cytogenet Genome Res    . 2015;146(2):120-123.
  63. Louvrier C, Egea G, Labalme A, Des Portes V, Gazzo S, Callet-Bauchu E, Till M, Sanlaville D, Edery P, Schluth-Bolard C.
    Characterization of a de novo supernumerary neocentric ring chromosome derived from chromosome 7.
    Cytogenet Genome Res    . 2015;147(2-3):111-7.
  64. Quinonez SC, Gelehrter TD, Uhlmann WR.
    A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.
    Am J Med Genet A. 2017 Jan;173(1):268-273.
  65. Cheng D, Yuan S, Yi D, Luo K, Xu F, Gong F, Lu C, Lu G, Lin G, Tan YQ.
    Analysis of molecular cytogenetic features and PGT-SR for two infertile patients with small supernumerary marker chromosomes.
    J Assist Reprod Genet    . 2019 Dec;36(12):2533-2539.
  66. Carter J, Brittain H, Morrogh D, Lench N, Waters JJ.
    An interstitial 4q deletion with a mosaic complementary ring chromosome in a child with dysmorphism, linear skin pigmentation, and hepatomegaly.
    Case Rep Genet. 2017;2017:4894515.
  67. 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 Jul;37(7):1729-1736.
  68. 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, 11:e6632.
  69. Chen CP, Chan CH, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Lee MS, Wang W.
    Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome.
    Taiwan J Obstet Gynecol. 2021 Jan;60(1):152-156.
  70. Minzhenkova M, Markova Z, Shilova N.
    Five cases of constitutional neocentric supernumerary marker chromosomes.
    ECA-Newsletter 2021, 48, pp29-30. Poster 3.P8.
  71. 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.
  72. Yi D, Yuan S, Hu L, Gong F, Luo K, Hu H, Tan Y, Lu G, Lin G, Cheng D.
    [Genetic analysis and assisted reproductive guidance for two infertile patients with rare small supernumerary marker chromosomes].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10;41(5):519-525. Chinese.