Male Infertility with Reciprocal Translocation t(1;21)(q11;p13) / 대한진단검사의학회지

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.