[Breakpoints of balanced chromosome 1 translocation is related to routine semen parameters]

To explore the influence of the breakpoints of balanced chromosome 1 translocation on routine semen parameters.

This study included 44,239 patients with male reproductive abnormalities from the outpatient department of Shandong University Hospital of Reproduction between January 2017 and December 2020. Through chromosome G banding karyotype analysis of peripheral blood, 57 of the patients were diagnosed as balanced chromosome 1 translocation carriers and underwent routine semen examination.

Normal semen were found in 24.56% and abnormal semen in 75.44% of the 57 balanced chromosome 1 translocation carriers. The most common breakpoints were p36.2, p21, q31 and q32 for normal semen, q21, p13, p10, p21, p11, q24 and q32 for abnormal semen in the 11 cases of azoospermia, q21, p13, p32, p22 and p12 in the 5 patients with severe semen abnormalities such as oligospermia and asthenospermia, and q21, p13 and p10 in azoospermia and severe semen abnormalities.

Balanced chromosome 1 translocation is closely related to routine semen parameters, and so is the breakpoint of chromosome 1 to the severity of semen abnormalities.