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目的通过对1432例男性不育患者进行细胞遗传学分析,初步探讨外周血染色体异常与男性不育的关系及分析研究染色体异常在男性不育中的诊断意义。方法对1432例男性不育患者进行外周血染色体G显带检查,分析其外周血染色体核型。结果共检出染色体异常患者217例,占总数的15.15%(217/1432),包括性染色体异常70例,占染色体异常者总数的32.26%(70/217),检出率4.89%(70/1432),其中性染色体数目异常16例,Y染色体结构异常52例,性反转2例;常染色体结构异常147例,占染色体异常者总数的67.74%(147/217),检出率10.27%(147/1432),其中平衡易位11例,倒位21例(9号倒位20例),插入3例(未知来源的2例),染色体多态性变异112例。结论染色体异常是导致男性不育的重要原因,对男性不育患者常规进行细胞遗传学检查很有必要。
Objective To investigate the relationship between chromosomal aberrations in peripheral blood and male infertility and to analyze the diagnostic significance of chromosomal abnormalities in male infertility by analyzing cytogenetic analysis of 1432 male infertility patients. Methods A total of 1432 male infertile patients were examined by G-banding of peripheral blood to analyze the karyotypes of peripheral blood. Results A total of 217 cases of chromosomal abnormalities were detected, accounting for 15.15% (217/1432) of the total, including 70 cases of chromosomal abnormalities, accounting for 32.26% (70/217) of the total number of chromosomal abnormalities. The detection rate was 4.89% (70 / 1432). There were 16 cases with abnormal sex chromosome number, 52 cases with Y chromosome abnormality and 2 cases with sexual inversion. 147 cases with abnormal autosomal abnormalities accounted for 67.74% (147/217) of the total number of chromosomal abnormalities with the detection rate of 10.27% (147/1432), including 11 cases of balanced translocation, 21 cases of inverted position (20 cases of inverted position 9), 3 cases of insertion (2 cases of unknown origin) and 112 cases of polymorphic variation. Conclusions Chromosomal abnormalities are the main reasons leading to male infertility. It is necessary to carry out routine cytogenetic examination in male infertility patients.