武汉地区679例男性性发育异常和不育患者染色体分析

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。

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

Objective:To investigate the relationship between man sexual abnormality,man infertility and abnormal chromosome karyotypes and that would be helpful for clinical diagnosis of hereditary disease.Methods:A total of 679patients with man sexual abnormality and infertility in Wuhan areas accepted peripheral blood lymphocytes cultivating and conventional chromosome Gbanding karyotype detection and analysis.Results:Of the 679cases,111were abnormal chromosome karyotypes,and the total detection rate was 16.3%.Among 75cases of Klinefelters syndromes,14cases had sex reversal syndromes,13cases had autosomal abnormalities,and 9cases were Y-chromosome polymorphisms.The number of patients with man sexual abnormality were 284,abnormal chromosomes were 44,and the abnormal rate was 15.5%;the number of sex chromosomes and autosomal abnormalities were 43and 1,respectively.Of the cases of 395man infertility,abnormal chromosomes were fand in found in 67,and the abnormal rate was 17.0%, including 55cases of sex chromosomes and 12cases of autosomal abnormalities,respectively. Conclusion:Chromosome abnormalities are the important factors resulting in man sexual abnormality and infertility,and chromosome examinations are recommended for the patients with man sexual abnormality and infertility.