[Chromosomal structural abnormalities in men with semen abnormality and analysis of 19 cases of first-reported abnormal karyotype].

ABSTRACT

OBJECTIVE: To investigate the chromosomal structural abnormalities and pregnancy outcomes in men with semen abnormality. METHODS: We analyzed the karyotype of 3 095 male patients with semen abnormality spermatogenesis, performed pedigree analysis and provided reproduction guidance for those with chromosomal structural abnormalities. RESULTS: Of the 3 095 male patients with semen abnormality, 52 (1.68%) cases of chromosomal structural abnormalities were detected, including 28 cases of balanced translocation, 21 cases of Robertsonian translocation and 3 cases of chromosome inversion. There were 19 cases of rare abnormal karyotype first reported in the world. CONCLUSION: Reciprocal translocation is a main type of chromosomal structural abnormality in male patients with semen abnormality. An insight into the types of chromosomal abnormalities and analysis of the heredity of chromosomes in a family may help detect chromosomal abnormality carriers and provide scientific reproduction guidance.