武汉地区679例男性性发育异常和不育患者染色体分析  

Chromosomal Analysis of 679 Cases Male Patients with Sexual Abnormality and Infertility in Wuhan Areas

作　　者：田莉[1] 李黎[2] 陈明[1] 彭剑虹[3] 黄伏生[2] 

机构地区：[1]武汉大学中南医院输血科,湖北武汉430071 [2]武汉大学中南医院检验科,湖北武汉430071 [3]武汉大学中南医院基因诊断中心,湖北武汉430071

出　　处：《武汉大学学报（医学版）》2014年第1期118-121,共4页Medical Journal of Wuhan University

摘　　要：目的:探讨男性性发育异常、男性不育与染色体异常的关系,指导临床对这些疾病的诊断。方法:采集武汉地区679例男性性发育异常和男性不育患者外周静脉血,常规染色体G显带核型检测与分析。结果:679例患者共检出异常核型111例,总检出率16.4%。其中,Klinefelter’s综合征75例,性反转14例,常染色体异常13例,Y染色体多态性9例。男性性发育异常284例染色体异常44例,异常率15.5%,其中性染色体异常43例,常染色体异常1例;男性不育395例,染色体异常67,异常率17.0%,其中性染色体异常55例,常染色体异常12例。结论:染色体异常是导致男性性发育异常和男性不育患者的重要原因之一,对男性性发育异常和男性不育患者进行染色体检查可为临床诊断和优生优育提供依据。Objective. To investigate the relationship between man sexual abnormality, man infertility and abnormal chromosome karyotypes and that would be helpful for clinical diagnosis of heredi- tary disease. Methods： A total of 679 patients with man sexual abnormality and infertility in Wu- ban areas accepted peripheral blood lymphocytes cultivating and conventional chromosome G- banding karyotype detection and analysis. Results. Of the 679 cases, 111 were abnormal chromo- some karyotypes, and the total detection rate was 16.3~. Among 75 cases of Klinefelters syn- dromes, 14 cases had sex reversal syndromes, 13 cases had autosomal abnormalities, and 9 cases were Y-chromosome polymorphisms. The number of patients with man sexual abnormality were 284, abnormal chromosomes were 44, and the abnormal rate was 15. 5G~ the number of sex chromosomes and autosomal abnormalities were 43 and 1, respectively. Of the cases of 395 man infertility, abnormal chromosomes were land in found in 67, and the abnormal rate was 17.0 G, including 55 cases of sex chromosomes and 12 cases of autosomal abnormalities, respectively. Conclusion. Chromosome abnormalities are the important factors resulting in man sexual abnor- mality and infertility, and chromosome examinations are recommended for the patients with man sexual abnormality and infertility.

关 键 词：性发育异常 男性不育 染色体核型 Klinefelter’s综合征 性反转 

分 类 号：Q343[生物学—遗传学]