Balanced Reciprocal Translocation t(17;22)(p11.2;q11.2) and 10q23.31 Microduplication in a Infertility Male Suffering from Teratospermia

Abstract We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(17;22)(p11.2;q11.2) and a microduplication in the region 10q23.31, in an infertility man suffering from teratospermia. Several genes located on the translocation breakpoints or the region of duplication show rich expression in the tissue of testis. They have been reported to be associated with developmental disorder and retardation, which might also be the risk factors affecting in spermatogonial differentiation and spermatogenesis. More studies should be carried out for identifification of new genes associated with semen quality. Our case might support the opinion that haploinsufficiency of the testis-expressed gene could be the cause of sperm immotility and abnormal sperm morphology. The two chromosomal abnormalities that carry additional reproductive risks, is apparently harmful with regard to the male infertility, and could contribute to the genomic instability resulting in disease.