Dicentric Y chromosome in an azoospermic male

A Yoshida
1997 Molecular human reproduction  
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
more » ... 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.
doi:10.1093/molehr/3.8.709 pmid:9294856 fatcat:7h65wrvbv5djzpciy42a3lxpfa