Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis

European Journal of Medical Genetics

Volumn 49, Issue 2, 2006, Pages 141-149

  Aktas, Dilek ^a   Alikasifoglu, Mehmet ^a   Gonc, Nazli ^a   Senocak, Mehmet E ^a   Tuncbilek, Ergul ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

AZF; FISH; Isodicentric Y; Mixed gonadal dysgenesis; Sequencing; SRY

Indexed keywords

ARTICLE; AZOOSPERMIA; CASE REPORT; CHROMOSOME PAINTING; DICENTRIC CHROMOSOME; DNA EXTRACTION; DNA SEQUENCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GONADAL DYSGENESIS; HUMAN; INFANT; KARYOTYPING; PERIPHERAL LYMPHOCYTE; PHENOTYPE; POLYMERASE CHAIN REACTION; SRY GENE; Y CHROMOSOME;

CELLS, CULTURED; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, Y; CYTOGENETIC ANALYSIS; FEMALE; GENETIC MARKERS; GONADAL DYSGENESIS, MIXED; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE;

EID: 33644852925     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.05.012     Document Type: Article

References (23)

1. L.Y. Hsu Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases Am. J. Med. Genet. 53 1994 108 140
2. A. Yoshida, Y. Nakahori, Y. Kuroki, M. Motoyama, Y. Araki, K. Miura, and M.M. Shirai Dicentric Y chromosome in an azoospermic male Mol. Hum. Reprod. 3 1997 709 712
3. C.M. Tuck-Muller, H. Chen, J.E. Martinez, C.C. Shen, S. Li, C. Kusyk, D.A. Batista, Y.M. Bhatnagar, E. Dowling, and W. Wertelecki Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature Hum. Genet. 96 1995 119 129
4. I.H. Krasna, M.L. Lee, P. Smilow, L. Sciorra, and L. Eierman Risk of malignancy in bilateral streak gonads: the role of the Y chromosome J. Pediatr. Surg. 27 1992 1376 1380
5. A.H. Sinclair, P. Berta, M.S. Palmer, J.R. Hawkins, B.L. Griffiths, M.J. Smith, J.W. Foster, A.M. Frischauf, R. Lovell-Badge, and P.N. Goodfellow A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif Nature 346 1990 240 244
6. A. Yenamandra, P. Deangelo, H. Aviv, L. Suslak, and F. Desposito Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child Am. J. Med. Genet. 72 1997 125 128
7. P.H. Yen A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males Genomics 54 1998 5 12
8. R. Reijo, T.Y. Lee, P. Salo, R. Alagappan, L.G. Brown, M. Rosenberg, S. Rozen, T. Jaffe, D. Straus, and O. Hovatta Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene Nat. Genet. 10 1995 383 393
9. ISCN Guidelines for cancer cytogenetics F. Mitelman Supplement to an International System for Human Cytogenetic Nomenclature 1995 Karger Basel (1995)
10. M. Kent-First, A. Muallem, J. Shultz, J. Pryor, K. Roberts, W. Nolten, L. Meisner, A. Chandley, G. Gouchy, L. Jorgensen, T. Havighurst, and J. Grosch Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection Mol. Reprod. Dev. 53 1999 27 41
11. E. Therman, G.E. Sarto, and K. Patau Apparently isodicentric but functionally monocentric X chromosome in man Am. J. Hum. Genet. 26 1974 83 92
12. D.J. Wolff, A.P. Miller, D.L. Van Dyke, S. Schwartz, and H.F. Willard Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation Am. J. Hum. Genet. 58 1996 154 160
13. D.O. Robinson, P. Dalton, P.A. Jacobs, K. Mosse, M.M. Power, D.H. Skuse, and J.A. Crolla A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome J. Med. Genet. 36 1999 279 284
14. M. Codina-Pascual, M. Oliver-Bonet, J. Navarro, H. Starke, T. Liehr, C. Gutierrez-Mateo, J.F. Sanchez-Garcia, O. Arango, J. Egozcue, and J. Benet FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male Am. J. Med. Genet. 127 2004 302 306
15. M. Guttenbach, U. Muller, and M. Schmid Cytogenetic and molecular analysis of a Yq isochromosome Hum. Genet. 86 1990 147 150
16. K.S. Reddy, V. Sulcova, C.K. Ho, E.D. Conner, and A. Khurana An infant with a mosaic 45,X/46,X,psu dic(Y) (pter - >q11.2::q11.2 - >pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads Am. J. Med. Genet. 66 1996 441 444
17. A. Shanske, I. Sachmechi, D.K. Patel, A. Bishnoi, and F. Rosner An adult with 49,XYYYY karyotype: case report and endocrine studies Am. J. Med. Genet. 80 1998 103 106
18. T. Lukusa, J.P. Fryns, and H. Van den Berghe Gonadoblastoma and Y-chromosome fluorescence Clin. Genet. 29 1986 311 316
19. B. Gibbons, S.Y. Tan, C.C. Yu, E. Cheah, and H.L. Tan Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads J. Paediatr. Child Health 135 1999 210 213
20. F.J. Cameron, and A.H. Sinclair Mutations in SRY and SOX9: testis-determining genes Hum. Mutat. 9 1997 388 395
21. R. Fernandez, J.A. Marchal, A. Sanchez, and E. Pasaro A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter - >q11::q11 - >pter) Hum. Genet. 111 2002 242 246
22. P.H. Yen Advances in Y chromosome mapping Curr. Opin. Obstet. Gynecol. 11 1999 275 281
23. P.H. Vogt, A. Edelmann, S. Kirsch, O. Henegariu, P. Hirschmann, F. Kiesewetter, F.M. Kohn, and W.B. Schill Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 Hum. Mol. Genet. 5 1996 933 943