Ring (Y) in two azoospermic men

Ying Hui Lin, YungMing Lin, Ying Hong Lin, Louise Chuang, Shih Yi Wu, Pao-Lin Kuo

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

Abstract

We have identified two azoospermic men with r(Y) in 312 infertile men presenting with non-obstructive azoospermia or oligozoospermia. Their karyotypes were 45,X[9]/46,X, r(Y)(p11q11) [11] (case 1), and 46,X, r(Y)(p11q11) (case 2), respectively. In both cases, the Yp breakpoints were located within the pseudoautosomal region. Both cases had extensive deletions of azoospermia factors (AZFs). Case 1 also had deletion of the putative growth controlling gene (GCY) and the Yq breakpoint was located between sY741 and USP9Y. The Yq breakpoint was located between sY105 and sY109 in case 2. Both cases did not have Turner stigmata except short stature in case 1. By a combination of cytogenetic and molecular genetic tools, we showed r(Y) arose from breakage in both arms of the chromosome with subsequent fusion of two broken ends of the centric fragment to form a continuous ring. Spermatogenic defects in men with r(Y) may result from deletion of Y-linked AZFs combined with synaptic failure.

Original languageEnglish
Pages (from-to)209-213
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume128 A
Issue number2
DOIs
Publication statusPublished - 2004 Jul 15

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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