Dicentric Y chromosome in an azoospermic male.
We describe a 28 year old male with a pseudodicentric Y chromosome who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte, as diagnosed by testicular biopsy. Chromosome analysis, using G, Q and C banding techniques, revealed an abnormal karyotype of 45,X[7]/46,X,psu dic (Y)(pter-->q11.2::q11.2-->pter)[33]. Polymerase chain reaction (PCR) DNA analysis did not detect the absence of DAZ and RBM1 which are candidates for azoospermic factor (AZF) genes. Therefore, it is suggested that the maturation arrest of the primary spermatocyte in this patient was caused either by a pairing dysfunction between the X and Y chromosomes during meiosis or by deletions in the autosomal or the Y chromosomal spermatogenesis controlling genes, excluding DAZ and RBM1.
Yoshida
A
A
First Department of Urology, Toho University School of Medicine, Tokyo, Japan.
Nakahori
Y
Y
Kuroki
Y
Y
Motoyama
M
M
Araki
Y
Y
Miura
K
K
Shirai
M
M
D000328:Adult; D002871:Chromosome Banding; D002874:Chromosome Mapping; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction / Q000379:methods; D011506:Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D012729:Sex Chromosome Aberrations; D013090:Spermatocytes / Q000473:pathology; D013737:Testis / Q000473:pathology; D014998:Y Chromosome
C101358:DAZL protein, human; D005819:Genetic Markers; D009687:Nuclear Proteins; D011506:Proteins; C501499:RBMY1A1 protein, human; D016601:RNA-Binding Proteins