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

作　　者：陈美佳 吕福通 黄霈 赵绮 CHEN Mei-jia;LÜFu-tong;HUANG Pei;ZHAO Qi(Department of Clinical Laboratory,Reproduction Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530021,China)

机构地区：[1]广西壮族自治区生殖医院检验科,广西南宁530021

出　　处：《中华男科学杂志》2022年第5期402-407,共6页National Journal of Andrology

基　　金：广西壮族自治区自然科学基金青年基金项目(2014GXNSFBA118199)。

摘　　要：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.

关 键 词：平衡易位 染色体倒位 罗伯逊易位 精液异常 首报核型 

分 类 号：R321.1[医药卫生—人体解剖和组织胚胎学] R394.2[医药卫生—基础医学]