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Ring (Y) in two azoospermic men
Author(s) -
Lin YingHui,
Lin YungMing,
Lin YingHong,
Chuang Louise,
Wu ShihYi,
Kuo PaoLin
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30097
Subject(s) - breakpoint , azoospermia , pseudoautosomal region , biology , genetics , karyotype , y chromosome , ring chromosome , short stature , chromosome , gene , infertility , endocrinology , pregnancy
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. © 2004 Wiley‐Liss, Inc.