tl_files/tiny_templates/Bilder TL/sSMC/kl-sSMC.jpg



     0.   Liehr et al. unpublished data

  1. Levy B, Jalal SM, Dunn TM, Warburton PE, Tonk VS, Hirschhorn K, Lockhart LH, Hughes T, Velagaleti GV.
    Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay.
    Am J Med Genet. 2002 Mar 15;108(3):198-204.
  2. 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.
  3. 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.
  4. Li S, Malafiej P, Levy B, Mahmood R, Field M, Hughes T, Lockhart LH, Wu Z, Huang M, Hirschhorn K, Velagaleti GV, Daniel A, Warburton PE.
    Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum.
    Am J Med Genet. 2002 Jul 1;110(3):258-267.
  5. Morrissette JD, Celle L, Owens NL, Shields CL, Zackai EH, Spinner NB.
    Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere.
    Am J Med Genet. 2001 Feb 15;99(1):21-28.
  6. Zinn AB, Rush PW, Liebman J, Stallard R, Schwartz S.
    Identification of an unusual marker chromosome lacking alpha satellite DNA,
    Am J Hum Genet. 1997, 53 (Suppl.):633.
  7. Lozzio C, Lyall L, Bamberger E, Ralston E.
    Mosaic for small metacentric chromosome with tetrasomy 13q32-qter and non-alpha satellite centromere.
    Am J Hum Genet 1997; 61(Suppl.):A132.
  8. Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, Hasegawa T, Ohashi H, Govaerts LC, Eussen BH, Van Hemel JO, Lozzio C, Schwartz S, Dowhanick-Morrissette JJ, Spinner NB, Rivera H, Crolla JA, Yu C, Warburton D.
    Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.
    Am J Hum Genet. 2000 Jun;66(6):1794-1806.
  9. Rivera H, Vasquez AI, Garcia-Cruz D, Crolla JA.
    Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break.
    Am J Med Genet. 1999 Aug 6;85(4):385-388.
  10. Tohma T, Ohashi H, Hasegawa T, Nagai T, Fukushima Y, Naritomi K.
    Two cases with mosaic partial tetrasomy 13q associated with an acentric marker chromosome.
    Am J Hum Genet 1998; 63(Suppl.) A152.
  11. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  12. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714
  13. Barwell J, Mazzaschi R, Bint S, Ogilvie CM, Elmslie F.
    A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype.
    Am J Med Genet. 2004;130A(3):295-298.
  14. Goevaerts LP, de Coo IFM, van der Blij-Philipsen M, Wouters CH, Sussen HJFMM, Yu CY, Warburton D, van Hempel JO.
    Tetrasomy (13)(q32-qter) due to neocentromere at 13q32 in a mentally retarded boy with progressive loss of function.
    Am J Hum Genet 1999; 65(Suppl.):A893.
  15. 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.
  16. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  17. Tönnies H, Gerlach A, Starke H, Liehr T, Heineking B, Neumann LM, Neitzel H.
    Straightforward molecular cytogenetic identification and characterization of a de novo supernumerary neocentric derivative chromosome 13.
    Chromosome Res 2005; 13 suppl. 1: 64 (Abstractnr. 1.116-P)
  18. Mascarhenhas A, Matoso E, Couceiro A, Juliao MJ, Jardim A, Ribero P, Lavoura N, Saraiva J, Marques Carreira I.
    Prenatal diagnosis of a partial tetrasomy 13q due to an inversion duplication analphoid supernumerary marker.
    Chromosome Res 2005; 13 suppl. 1, 138 (Abstractnr 7.42-P)
  19. Kolthoff M, Hoffner L, Dunn J, Macpherson T, Hunt J, Sniezek L, Surti U.
    Persistent trophoblastic disease following a fetal chimera line (chi46,XYpat[18]/47,XX,+mar1[8]) in one twin.
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p171 (Abstractno. 860)
  20. Marques Carreira I., Mascarhenhas A, Matoso E, Couceiro A, Juliao MJ, Jardim A, Ramos L, Toennies H.
    A neocentromere locus at 13q31 in a supernumerary marker resulting in a mosaic tetrasomy of distal 13q.
    Eur J Hum Gen 2006; 14 suppl. 1, p184 (Abstractnr. P0391)
  21. Tönnies H, Gerlach A, Heineking B, Starke H, Neitzel H, Neumann LM.
    Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13.
    Cytogenet Genome Res. 2006;114(3-4):325-329.
  22. 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.
  23. Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrak J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D.
    Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.
    Cytogenet Genome Res. 2007;118(1):31-37.
  24. 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.
  25. 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.
  26. 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.
  27. Alonso A, Mahmood R, Li S, Cheung F, Yoda K, Warburton PE.
    Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeres.
    Hum Mol Genet. 2003 Oct 15;12(20):2711-2721.
  28. 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
  29. 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).
  30. Mascarenhas A, Matoso E, Saraiva J, Tönnies H, Gerlach A, Julião MJ, Melo JB, Carreira IM.
    First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q.
    Cytogenet Genome Res. 2008;121(3-4):293-297.
  31. Portnoi MF, Joyé N, Abdelmoula N, Nouchy M, Taillemite JL.
    Two acrocentric marker chromosomes derived from terminal part of chromosomes 3 and 13.
    Cytogenet Cell Genet 1999, 85(1-2):163 (Abstractno: P688).
  32. Escobar JI, Yunis JJ.
    Trisomy for the proximal segment of the long arm of chromosome 13: a new entity?
    Am J Dis Child. 1974 Aug;128(2):221-222.
  33. Escobar JI, Sanchez O, Yunis JJ.
    Trisomy for the distal segment of chromosome 13: a new syndrome.
    Am J Dis Child. 1974 Aug;128(2):217-220.
  34. Moedjono SJ, Sparkes RS.
    Partial trisomy of 13(pter to q12) due to 47,XY, + der(13),t(13;22)(q12;q13)mat.
    Hum Genet. 1979 Sep;50(3):241-246.
  35. 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.
  36. Patil SR, Zellweger H.
    Partial trisomy 13: the myth of nonmongoloid trisomy G.
    Clin Pediatr (Phila). 1981 Aug;20(8):534-536.
  37. Tharapel SA, Lewandowski RC, Tharapel AT, Wilroy RS Jr.
    Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.
    J Med Genet. 1986 Aug;23(4):310-315.
  38. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 570-571.
  39. Tsipouras P, Vekemans M, Rudner M
    Tertiary trisomy for the proximal part if the long arm of chromosome 13.
    Am J Hum Genet 1979; 31 113A.
  40. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 580-586.
  41. JCK Barber, S Huang, S Beal, D Bunyan, VK Maloney, M Collinson, JA Crolla.
    sSMC characterization by array-CGH.
    ECA-Newsletter 2009:24, p12.
  42. Warburton PE.
    Organization of kinetochore chromatin domains at human neocentromeres.
    ASHG 2009; abstract only online, information from talk.
  43. 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.
  44. Alonso A, Hasson D, Cheung F, Warburton PE.
    A paucity of heterochromatin at functional human neocentromeres.
    Epigenetics Chromatin. 2010 Mar 8;3(1):6.
  45. Habibian R, Hajianpour A, Szymznska J, Wang F, Huang QQ, Wang JC.
    Marker chromosome 13 with an apparent neocentromere detected by array CGH in a fetus with MCA.
    ASHG 2010; abstract 1270 - only online.
  46. Maya I, Davidov B, Gershovitz L, Zalzstein Y, Taub E, Coppinger J, Shaffer LG, Shohat M.
    Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.
    Prenat Diagn. 2010 Dec;30(12-13):1131-1137.
  47. 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.
  48. 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.
  49. Chun K, Hryshko M, Konkin D, Bal S, Bernier D, Tomiuk M, Burnett S, Frosk P, Chodirker BN, Dawson AJ.
    Molecular cytogenetic prenatal diagnosis of a fetus with a mosaic supernumerary neocentromeric derivative chromosome 13.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1270W.
  50. 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.
  51. Haddad V, Aboura A, Tosca L, Guediche N, Mas AE, L'herminé AC, Druart L, Picone O, Brisset S, Tachdjian G.
    Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.
    Am J Med Genet A. 2012 Apr;158A(4):894-900.
  52. Dawson AJ, Hryshko M, Konkin D, Bal S, Bernier D, Tomiuk M, Burnett S, Frosk P, Chodirker BN, Chun K.
    Origin of a prenatal mosaic supernumerary neocentromeric derivative chromosome 13 determined by QF-PCR.
    Fetal Diagn Ther. 2013;33(1):75-78.
  53. 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.
  54. 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.
  55. Faletra F, Berti I, Tommasini A, Pecile V, Cleva L, Alberini E, Bruno I, Gasparini P.
    Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis.
    Dermatology. 2012;225(4):294-297.
  56. Liu J, Jethva R, Del Vecchio MT, Hauptman JE, Pascasio JM, de Chadarévian JP.
    Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord.
    Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):812-815.
  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. Chinese.
  58. Stembalska A, Jagielska G, Laczmanska I, Szmida E, Jarczynska A, Gil J.
    Hexasomy 13q31.3q34 due to two marker chromosomes with inverted duplication in a fetus with increased nuchal translucency.
    Birth Defects Res A Clin Mol Teratol. 2015 Apr;103(4):255-259.
  59. Wen X, Qi H, Ren J, Yang K, Zhu J, Chen J, Cai L, Zengwen.
    [Detection of small supernumerary marker chromosome by single nucleotide polymorphism microarray chips].
    Zhonghua Er Ke Za Zhi. 2015 Mar;53(3):198-202.
  60. Wang Y, Cheng Q, Meng L, Luo C, Hu H, Zhang J, Cheng J, Xu T, Jiang T, Liang D, Hu P, Xu Z.
    Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study.

    Clin Genet
    . 2016 Nov 24. doi: 10.1111/cge.12926. [Epub ahead of print]