Association between chromosome 22q11.2 translocation and male oligozoospermia

Chromosomal aberrations in peripheral blood are a major cause of reproductive disorders for the infertile couples. Reciprocal translocation is closely related to male infertility. The breakpoint of translocation may disrupt or dysregulate important genes related to spermatogenesis. The relationship between some breakpoints of chromosome and male infertility has been paid attention. Chromosome 22q11.2 translocation has not been reported with male infertility. The purpose of this study is to evaluate the relationship between chromosome 22q11.2 translocation and male infertility. All patients were collected from the second hospital of Jilin University. Semen parameters were detected using the computer-aided semen analysis system. Cytogenetic analysis was performed using standard operating procedure. Related genes on chromosomal breakpoints were searched using online mendelian inheritance in man (OMIM). The association between this breakpoint and spermatogenesis is also discussed. We report 6 cases of translocation in chromosome 22. Of 7 breakpoints involved in these translocations, the common feature is that they all included chromosome 22q11.2 translocation and presented with oligozoospermia. The analysis of breakpoint related genes showed testis-specific serine/threonine kinase 2 (TSSK2) gene is associated with human spermatogenesis impairment. Overall, these results suggest that the breakpoint involved in translocation deserves attention from physicians in genetic counseling. The breakpoint rearrangement has the possibility of disrupting spermatogenesis. The relationship between 22q11.2 breakpoint and male infertility deserves further study.