Hwang Sang Hyun, Lee Sun Min, Seo Eul Ju, Choi Kyung Un, Park Hyun Jun, Park Nam Cheol, Choi Jin, Lee Eun Yup
Department of Laboratory Medicine, School of Medicine Pusan National University, Busan, Korea.
Korean J Lab Med. 2007 Apr;27(2):139-42. doi: 10.3343/kjlm.2007.27.2.139.
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.
在患有无精子症或少精子症的男性中，约3.6%-7.6%存在染色体异常。X染色体与常染色体之间的易位是导致男性不育的罕见遗传疾病。我们在此描述一名26岁的不育男性，其核型为t(X;14)(p11.4; p12)。他表现出正常的表型，且无先天性异常的家族史。先证者的细胞遗传学分析显示存在X-常染色体易位，核型为46,Y,t(X;14)(p11.4;p12)，该易位遗传自其母亲。睾丸活检表明精子发生停滞。采用11个序列标签位点（STS）标记进行PCR检测，结果显示Y染色体上的无精子症因子a（AZFa）、AZFb和AZFc区域无微缺失。根据文献报道，无论X染色体上断点的位置如何，X-常染色体易位的男性携带者均为不育。据我们所知，这是韩国首例关于t(X;14)(p11.4;p12)导致无精子症的病例报告。
