Korean J Lab Med.
2002 Aug;22(4):286-288.
Male Infertility with Reciprocal Translocation t(1;21)(q11;p13)
- Affiliations
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- 1Department of Laboratory Medicine, Dong-A University College of Medicine, Korea. labmed@damc.or.kr
- 2Department of Pharmacology, Dong-A University College of Medicine, Korea.
- 3Department of Laboratory Medicine, Samsun Hospital, Korea.
- 4Department of Urology, Moonhwa Hospital, Busan, Korea.
- 5Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
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.
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