Male Infertility with Reciprocal Translocation t(1;21)(q11;p13).
- Author:
Jin Yeong HAN
1
;
Kyeong Hee KIM
;
Tae Ho HWANG
;
Soon Young MOON
;
Jong Il KIM
;
Lisa G SHAFFER
Author Information
1. Department of Laboratory Medicine, Dong-A University College of Medicine, Korea. labmed@damc.or.kr
- Publication Type:Case Report
- Keywords:
Male infertility;
Azoospermia;
t(1;
21);
Autosomal translocation;
Spermatocytic arrest
- MeSH:
Adult;
Arm;
Azoospermia;
Chromosomes, Human, Pair 1;
Chromosomes, Human, Pair 21;
Cytogenetic Analysis;
Humans;
Infertility;
Infertility, Male*;
Intelligence;
Male;
Male*;
Phenotype;
Sperm Count
- From:The Korean Journal of Laboratory Medicine
2002;22(4):286-288
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Reports of male infertility associated with autosomal translocations are rare. Cases involving translocations between chromosomes 1 and 21 are even rarer. We describe an azoospermic male with a reciprocal translocation t(1;21)(q11;p13). The patient, a 31-year-old man with normal intelligence and phenotype, sought medical attention for evaluation of infertility. He had no history of familial infertility or congenital anomalies. Sperm counts on three occasions all revealed azoospermia. The cytogenetic analysis of blood showed a reciprocal translocation between the long arm of chromosome 1 and the short arm of chromosome 21 in all of the cells examined. We believe that the case presented here is the first reported male infertility with t(1;21) at these particular breakpoints.
