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.
CITATION STYLE
Hwang, S. H., Lee, S. M., Seo, E. J., Choi, K. U., Park, H. J., Park, N. C., … Lee, E. Y. (2007). A case of male infertility with a reciprocal translocation t(X;14)(p11.4;p12). The Korean Journal of Laboratory Medicine, 27(2), 139–142. https://doi.org/10.3343/kjlm.2007.27.2.139
Mendeley helps you to discover research relevant for your work.