title: [A case of male infertility with a reciprocal translocation t(X;14)(p11.4;p12)].
abstract: 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.
authors: Department of Laboratory Medicine, School of Medicine Pusan National University, Busan, Korea.
authors: Sang Hyun
authors: SH
authors: Hwang
authors: Sun Min
authors: SM
authors: Lee
authors: Eul Ju
authors: EJ
authors: Seo
authors: Kyung Un
authors: KU
authors: Choi
authors: Hyun Jun
authors: HJ
authors: Park
authors: Nam Cheol
authors: NC
authors: Park
authors: Jin
authors: J
authors: Choi
authors: Eun Yup
authors: EY
authors: Lee
mesh_terms: 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