CHARACTERIZATION OF A DE-NOVO T(Y-9)(Q11.2-Q22) BY FISH TECHNIQUE

Citation
Ra. Conte et al., CHARACTERIZATION OF A DE-NOVO T(Y-9)(Q11.2-Q22) BY FISH TECHNIQUE, Annales de genetique, 39(1), 1996, pp. 10-15
Citations number
53
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00033995
Volume
39
Issue
1
Year of publication
1996
Pages
10 - 15
Database
ISI
SICI code
0003-3995(1996)39:1<10:COADTB>2.0.ZU;2-Q
Abstract
A new case with a de novo translocation involving the long arms of chr omosomes Y and 9 i.e. 46, X, t(Y;9) (q11.2;q22) was noted in a phenoty pically normal male as revealed by GTG technique and subsequently conf irmed using dual color whole chromosome painting probes, Since the Yq1 1.2 region was involved in the translocation the fecundity status of t he individual has been questioned. Previous cases with (Y;autosomal) t ranslocations have produced males with azoospermia, a variety of male gamete deformities and idiopathic sterility, The azoospermic factor (A ZF) on the distal Yq11 band, which apparently controls spermatogenesis , may have been adversely affected due to a microdeletion, rearrangeme nt or complete loss as a result of the translocation mechanism, Testic ular histological and fertility tests of the proband at a postpubescen t age will reveal the status, The sex determining region (SRY) on the Yp, which has been equated with the testis determining factor (TDF), i s believed to be intact, Dual color whole chromosome painting probes, which served as an important adjunct to GTG banding, increased the deg ree of certainty for the characterization of the involved translocatio n. A concise review of balanced (Y; autosome) translocation cases are annotated here.