[A case of male infertility with a reciprocal translocation t(X;14)(p11.4;p12)].
A chromosomal abnormality was found in about 3.6-7.6% of males presenting with azoospermia or oligospermia. Translocations between X chromosome and autosomes are rarely seen genetic disorders that cause male infertility. We described here a 26-year-old infertile male with t(X;14)(p11.4; p12). He showed a normal phenotype without any familial history of congenital abnormalities. The cytogenetic analysis of the proband revealed an X-autosomal translocation, 46,Y,t(X;14)(p11.4;p12), which was inherited from his mother. The testis biopsies indicated the arrest of spermatogenesis. There were no microdeletions of the azoospermia factor a (AZFa), AZFb and AZFc regions in the Y chromosome shown by PCR with 11 sequence-tagged site (STS) markers. According to the literature, male carriers of an X-autosome translocation are invariably sterile, regardless of the position of the break-point in the X chromosome. To our knowledge, this is the first case report of azoospermia with t(X;14)(p11.4;p12) in Korea.
Hwang
Sang Hyun
SH
Department of Laboratory Medicine, School of Medicine Pusan National University, Busan, Korea.
Lee
Sun Min
SM
Seo
Eul Ju
EJ
Choi
Kyung Un
KU
Park
Hyun Jun
HJ
Park
Nam Cheol
NC
Choi
Jin
J
Lee
Eun Yup
EY
D000328:Adult; D002883:Chromosomes, Human, Pair 14; D041321:Chromosomes, Human, X; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013091:Spermatogenesis; D014178:Translocation, Genetic