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KMID : 0981820070270020139
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Korean Journal of Laboratory Medicine
2007 Volume.27 No. 2 p.139 ~ p.142
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A Case of Male Infertility with a Reciprocal Translocation t(X;14)(p11.4;p12)
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Hwang Sang-Hyun
Seo Eul-Ju
Lee Eun-Yup
Park Hyun-Jun
Park Nam-Cheol
Lee Sun-Min
Choi Kyung-Un
Choi Jin
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Abstract
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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. (Korean J Lab Med 2007;27:139-42)
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KEYWORD
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Male infertility, Azoospermia, X-Autosome translocation, t(X, 14)
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