Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13

Cytogenetic and Genome Research

Volumn 114, Issue 3-4, 2006, Pages 325-329

  Tonnies H ^a   Gerlach, A ^a   Heineking, B ^a   Starke, H ^b   Neitzel, H ^a   Neumann, L M ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b Institute of Human Genetics and Anthropology   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AORTA COARCTATION; ARTICLE; AUTOSOME MOSAICISM; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CENTROMERE; CHROMOSOME 13; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME MICRODISSECTION; CLINICAL FEATURE; CONDUCTION DEAFNESS; DNA HYBRIDIZATION; EUCHROMATIN; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROCHROMATIN; HUMAN; HUMAN CELL; KARYOTYPE; LARYNGOMALACIA; LARYNX STENOSIS; MARKER CHROMOSOME; MICROPHTHALMIA; MOLECULAR PROBE; PRESCHOOL CHILD; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; TETRASOMY;

ABNORMALITIES, MULTIPLE; ADULT; CENTROMERE; CESAREAN SECTION; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 13; DEAFNESS; FEMALE; HUMANS; KARYOTYPING; MALE; MICROPHTHALMOS; MOSAICISM;

EID: 33748443596     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000094221     Document Type: Article

References (21)

1. Amor DJ, Choo KH: Neocentromeres: role in human disease, evolution, and centromere study. Am J Hum Genet 71:695-714 (2002).
2. Amor DJ, Voullaire L, Bentley K, Savarirayan R, Choo KH: Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormonedeficiency to 13q31.1→13q32.3. Am J Med Genet 133:151-157 (2005).
3. 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 130:295-298 (2004).
4. Crolla JA, Long F, Rivera H, Dennis NR: FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases. Am J Med Genet 75:355-366 (1998).
5. 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 6:1195-1204 (1997).
6. Dowhanick JJ, Celle L, Owens N, Lieber C, Aviv HA, Zackai EH, Spinner NB: Activation of a latent centromere following chromosome 13 rearrangement in a patient with bilateral retinoblastoma. Am J Hum Genet Suppl 63:A740 (1998).
7. Friedrich U, Houman M, Hansen BH, Kaltoft K: Microdissection and reverse painting in a melanoma cell line: a detailed description of structurally abnormal chromosomes. Cancer Genet Cytogenet 125:5-9 (2001).
8. Govaerts LP, de Coo IFM, van der Blij-Philipsen M, Wouters CH, Eussen HJFMM, Yu CY, Warburton D, Van Hemel JO: Tetrasomy (13)(q32-qter) due to a neocentromere at 13q32 in a mentally retarded boy with progressive loss of function. Am J Hum Genet Suppl 65:A893 (1999).
9. Li S, Malafiej P, Levy B, Mahmood R, Field M, Hughes M, Lockhart LH, Wu Z, Huang M, Hirschhorn K, Golpalrao VN, Velagaleti AD, Warburton PE: Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum. Am J Med Genet 110:258-267 (2002).
10. Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, Weise A, Kuechler A, Claussen U: Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9:335-339 (2002).
11. 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 Suppl 61:A751 (1997).
12. 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 99:21-28 (2001).
13. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T: A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108:199-204 (2001).
14. Oliver-Bonet M, Liehr T, Nietzel A, Heller A, Starke H, Claussen U, Codina-Pascual M, Pujol A, Abad C, Egozcue J, Navarro J, Benet J: Karyotyping of human synaptonemal complexes by cenM-FISH. Eur J Hum Genet 11:879-883 (2003).
15. 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 85:385-388 (1999).
16. Tohma T, Ohashi H, Hasegawa T, Nagai T, Fukushima Y, Naritomi K: Two cases of mosaic partial tetrasomy 13q associated with an acentric marker chromosome. Am J Hum Genet Suppl 63:A862 (1998).
17. Tönnies H: Modern molecular cytogenetic techniques in genetic diagnostics. Trends Mol Med 8:246-250 (2002).
18. Tönnies H, Neumann LM, Grüneberg B, Neitzel H: Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature. Am J Med Genet 121A:163-167 (2003).
19. Warburton PE: Chromosomal dynamics of human neocentromere formation. Chromosome Res 12:617-626 (2004).
20. Warburton PE, Cooke CA, Bourassa S, Vafa O, Sullivan B, Stetten G, Gimelli G, Warburton D, Tyler-Smith C, Sullivan KF, Poirier GG, Earnshaw WC: Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres. Curr Biol 7:901-904 (1997).
21. Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, et al: Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet 66:1794-1806 (2000).