A Case of Male Infertility with a Reciprocal Translocation t(X;14)(p11.4;p12).
10.3343/kjlm.2007.27.2.139
- Author:
Sang Hyun HWANG
1
;
Sun Min LEE
;
Eul Ju SEO
;
Kyung Un CHOI
;
Hyun Jun PARK
;
Nam Cheol PARK
;
Jin CHOI
;
Eun Yup LEE
Author Information
1. Department of Laboratory Medicine, School of Medicine Pusan National University, Busan, Korea.
- Publication Type:Case Report ; English Abstract
- Keywords:
Male infertility;
Azoospermia;
X-Autosome translocation;
t(X;
14)
- MeSH:
Adult;
*Chromosomes, Human, Pair 14;
*Chromosomes, Human, X;
Humans;
Infertility, Male/diagnosis/*genetics;
Karyotyping;
Male;
Spermatogenesis;
*Translocation, Genetic
- From:The Korean Journal of Laboratory Medicine
2007;27(2):139-142
- CountryRepublic of Korea
- Language: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.
