Dicentric Y chromosome in azoospermic males.
Two azoospermic, infertile men with a pseudodicentric Y chromosome are reported. The small isodicentric Y chromosomes were composed of duplicated short arm and proximal long arm Y, as proven by fluorescence in situ hybridisation using a Y centromere-specific DNA probe, pDP97, and a short arm probe pY-80. Both lacked germinal cells in the gonads. It was assumed that the azoospermia was caused by deletion or disruption of the azoospermic factor gene located at distal Yq11. Patient 2 measured 147 cm (-4.1 SD) in height and so it was assumed that he had also lost the "statural determinants" gene.
Department of Urology, Yamaguchi University School of Medicine, Ube, Japan.
H
H
Takihara
M
M
Tsukahara
Y
Y
Baba
K
K
Naito
T
T
Kajii
D000328:Adult; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D013737:Testis / Q000002:abnormalities / Q000473:pathology; D014998:Y Chromosome