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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 male sexual dysplasia, male infertility and chromosomal abnormalities and to guide the clinical diagnosis of these diseases. Methods: Peripheral venous blood was collected from 679 male patients with male sexual dysplasia and male infertility in Wuhan. The karyotypes of G chromosome were detected and analyzed. Results: A total of 111 cases with abnormal karyotype were detected in 679 patients, with a total detection rate of 16.4%. Among them, Klinefelter’s syndrome 75 cases, 14 cases of sexual inversion, 13 cases of autosomal abnormality, Y chromosome polymorphism in 9 cases. Male sexual dysplasia 284 cases of chromosomal abnormalities in 44 cases, the abnormal rate of 15.5%, 43 cases of chromosomal abnormalities, autosomal abnormalities in 1 case; 395 cases of male infertility, chromosomal abnormalities 67, anomalous rate of 17.0%, of which 55 cases of chromosomal abnormalities , Autosomal abnormalities in 12 cases. Conclusion: Chromosomal abnormalities are one of the important causes of male sexual dysplasia and male infertility. Chromosomal examination of male sexual dysplasia and male infertility may provide evidence for clinical diagnosis and prenatal and postnatal care.