染色体结构异常在男性精液异常患者中的分布及19例首报核型分析

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

目的:探讨男性精液异常患者的染色体结构异常及妊娠结局。方法:对3095例男性精液异常者进行染色体核型分析,染色体结构异常者进行家系分析与生育指导。结果:共检出染色体结构异常52例,占精液异常患者的1.68%,其中染色体平衡易位28例,罗伯逊易位21例,染色体倒位3例。有19例为国内外首报的异常核型。结论:男性精液异常患者中染色体结构异常以相互易位为主,明确染色体异常类型及分析家系染色体遗传,可检出家系中的染色体异常携带者,并给予科学的生育指导。

Objective:To investigate the chromosomal structural abnormalities and pregnancy outcomes in men with semen abnormality.Methods:We analyzed the karyotype of 3095 male patients with semen abnormality spermatogenesis,performed pedigree analysis and provided reproduction guidance for those with chromosomal structural abnormalities.Results:Of the 3095 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.