Mosaic ring Y chromosome in two normal healthy men with azoospermia

Fertility and Sterility

Volumn 84, Issue 6, 2005, Pages 1744.e1-1744.e4

  Bertini, Veronica ^a   Canale, Domenico ^a   Bicocchi, Maria Patrizia ^b   Simi, Paolo ^a   Valetto, Angelo ^a  

^a Universitaria Pisana   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

AZF regions; Azoospermia; FISH; Infertile male; Ring Y chromosome

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HUMAN; KARYOTYPE; KARYOTYPE 45,X; KARYOTYPE 46,XY; MALE; MALE INFERTILITY; METAPHASE CHROMOSOME; MOLECULAR GENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM;

EID: 28944450195     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2005.06.034     Document Type: Article

References (24)

1. A. Antonelli, L. Gandini, P. Petrinelli, L. Marcucci, R. Elli, F. Lombardo Chromosomal alterations and male infertility J Endocrinol Invest 23 2000 677 683
2. L.Y.F. Hsu Phenotype/karyotype correlations of Y chromosome aneuploidy with enphasis on structural aberrations in postnatally diagnosed cases Am J Med Genet 53 1994 108 140
3. P. Koopman, J. Gubbay, N. Vivian, P. Goodfellow, R. Lovell-Badge Male development of chromosomally female mice transgenic for SRY Nature 351 1991 117 121
4. R.J. Jager, M. Anvret, K. Hall, G. Scherer A human XY female with a frame shift mutation in the candidate testis-determining gene SRY Nature 348 1990 452 454
5. C. Clepet, A.J. Schafer, A.H. Sinclair, M.S. Palmer, R. Lovell-Badge, P.N. Goodfellow The human SRY transcript Hum Mol Genet 2 1993 2007 2012
6. P.H. Vogt, A. Edelmann, S. Kirsch, O. Henegariu, P. Hirschmann, F. Kiesewetter Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 Hum Mol Genet 5 1996 933 943
7. M. Simoni, E. Bakker, M.C. Eurlings, G. Matthijs, E. Moro, C.R. Muller Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions Int J Androl 22 1999 292 299
8. G. Kostolanyi Does ring syndrome exist? An analysis of 207 case reports on patients with a ring autosome Hum Genet 75 1987 175 179
9. P.S. Melzer, X.Y. Guan, J.M. Trent Telomere capture stabilizes chromosome breakage Nat Genet 4 1993 252 255
10. A. Pezzolo, L. Perroni, G. Gimelli, A. Arslanian, S. Porta, P. Gandullia Identification of ring Y chromosome cytogenetic analysis, Southern blot and fluorescent in situ hybridization Ann Genet 36 1993 121 125
11. O. Henegariu, O.H. Pescovitz, G.H. Vance, J. Verbrugge, N.A. Heerema A case with mosaic di-, tetra-, and octacentric ring Y chromosomes Am J Med Genet 71 1997 426 429
12. D.O. Robinson, P. Dalton, P.A. Jacobs, K. Mosse, M.M. Power, D.H. Skuse A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome J Med Genet 36 1999 279 284
13. C.M. Tuck-Muller, H. Chen, J.E. Martinez, C. Shen, S. Li, C. Kusyk Isodicentric Y chromosome, cytogenetic, molecular and clinical studies and review of the literature Hum Genet 96 1995 119 129
14. K. McElreavey, E. Vilain, N. Abbas, I. Herskowitz, M. Fellous A regulatory cascade hypothesis for mammalian sex determination SRY represses a negative regulator of male development Proc Natl Acad Sci U S A 90 1993 3368 3372
15. T. Odorisio, T.A. Rodriguez, E.P. Evans, A.R. Clarke, P.S. Burgoyne The meiotic checkpoint monitoring synapsis eliminates spermatocytes via p53-independent apoptosis Nat Genet 18 1998 257 261
16. P.H. Vogt Human chromosome deletions in Yq11, AZF candidate genes and male infertility history and update Mol Hum Reprod 4 1998 739 744
17. C. Foresta, A. Ferlin, E. Moro Deletion and expression analysis of AZFa-genes on the human Y chromosome revealed a major role for DBY in male infertility Hum Mol Genet 9 2000 1161 1169
18. D.J. Elliott, M.R. Millar, K. Oghene, F. Kiesewetter, J. Pryor, M. McIntyre Expression of RBM in the nuclei of germ cells is dependent on a critical region of the Y chromosome long arm Proc Natl Acad Sci U S A 94 1997 3848 3853
19. R. Rejo, T. Lee, P. Salo, R. Alagappan, L.G. Brown, M. Rosenberg Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene Nat Genet 14; 1995 292 299
20. B.T. Lahn, D.C. Page Functional coherence of the human Y chromosome Science 278 1997 675 680
21. C.A. Tilford, T. Kuroda-Kawaguchi, H. Skaletsi, S. Rozen, L.G. Brown, M. Rosenberg A physical map of the human Y chromosome Nature 409 2001 943 945
22. M.K. Bofinger, D.F. Needham, L.R. Saldana, J.P. Sosnowski, R.I. Blough 45,X/46,X,r(Y) karyotype transmitted by father to son after intracytoplasmic sperm injection for oligospermia. A case report J Reprod Med 44 1999 645 648
23. J. Blanco, A. Farreras, J. Egozcue, F. Vidal Meiotic behavior of the sex chromosomes in a 45,X/46,X,r(Y)/46,X, dic r(Y) patient whose semen was assessed by fluorescent in situ hybridization Fertil Steril 79 2003 913 918
24. M. Flatters, R. Maxfield, D. Dawson The effects of a ring chromosome on the meiotic segregation of other chromosomes in Saccaromices cerevisiae Mol Genet 249 1995 309 316