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目的:探讨染色体核型异常与男性无精子症、重度少弱精子症的关系。方法对2011年1月至2013年10月来我院生殖中心要求助孕的445例无精子症、147例重度少弱精子症患者,采用外周血常规染色体制备方法对染色体进行核型分析,并采用聚合酶链反应对122例Y染色体进行AZF微缺失检测,283例不育症患者进行睾丸/附睾穿刺取精检查。结果445例无精子症者检出染色体核型异常率为38.65%,分别为性染色体异常22.7%,常染色体异常6.52%、染色体多态性9.43%;147例重度少弱精子症者染色体异常率7.48%;与对照组相比差异均有统计学意义(P<0.01)。8例Y染色体AZF微缺失位点为AZFa(SY 84,SY 86),AZFb(SY 127,SY 134),AZFc (SY254,SY 255)。结论无精子症、重度少弱精子症与染色体核型异常及Y 染色体微缺失密切相关,有必要在提供辅助生殖技术之前进行遗传学检查。“,”Objective To detect the frequency and types of chromosomal anomalies for infertile men with azoospermia and severe oligozoospermia. Methods 445 cases of azoospermia and 147 cases of severe oligozoospermia patients in our reproductive center were recruited from January 2011 to October 2013. Karyotype analysis was performed in peripheral blood lymphocytes using standard G-banding. Y chromosome AZF microdeletions were detected using PCR . Testicular sperm retrieval puncture were done in 283 infertility men. Results The frequency of chromosomal abnormalities of azoospermia patients was 38.65%, including sex chromosomes abnormalities (22.7%), autosomals abnormalities (6.52%) and chromosome polymorphism abnormalities (9.43%). The frequency of chromosomal abnormalities of serve oligozoospermia patients was 7.48%. Both abnormal chromosome rates of azoospermia and severe oligoasthenospermia group were significant differences compared with that of the control group (P<0.01). Eight cases of AZF microdeletions sites were AZFa(SY 84 SY 86),AZFb(SY 127 SY 134),AZFc(SY254 SY 255). Conclusion Chromosome analysis is a necessary routine genetic testing, chromosome anomalies and Yq microdeletions may be associated with azoospermia and severe oligozoospermia in infertile men.