We describe a 28 year old male with a pseudodicentric Y chromosome who
suffered from azoospermia attributed to maturation arrest of the prim
ary spermatocyte, as diagnosed by testicular biopsy. Chromosome analys
is, using G, Q and C banding techniques, revealed an abnormal karyotyp
e of 45,X[7]/46,X,psu dic (Y)(pter-->q11.2::q11.2-->pter)[33]. Polymer
ase chain reaction (PCR) DNA analysis did not detect the absence of DA
Z and RBM1 which are candidates for azoospermic factor (AZF) genes. Th
erefore, it is suggested that the maturation arrest of the primary spe
rmatocyte in this patient was caused either by a pairing dysfunction b
etween the X and Y chromosomes during meiosis or by deletions in the a
utosomal or the Y chromosomal spermatogenesis controlling genes, exclu
ding DAZ and RBM1.