Ring (Y) in two azoospermic men.
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.
Lin
Ying-Hui
YH
Department of Obstetrics and Gynecology, National Cheng-Kung University Medical College, Tainan, Taiwan.
Lin
Yung-Ming
YM
Lin
Ying-Hong
YH
Chuang
Louise
L
Wu
Shih-Yi
SY
Kuo
Pao-Lin
PL
D000328:Adult; D001827:Body Height; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D041322:Chromosomes, Human, Y; D003582:Cytogenetics; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D012303:Ring Chromosomes; D016324:Sequence Tagged Sites