[A case of male infertility with a reciprocal translocation t(X;14)(p11.4;p12)]

Korean J Lab Med. 2007 Apr;27(2):139-42. doi: 10.3343/kjlm.2007.27.2.139.
[Article in Korean]

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, X*
  • Humans
  • Infertility, Male / diagnosis
  • Infertility, Male / genetics*
  • Karyotyping
  • Male
  • Spermatogenesis
  • Translocation, Genetic*