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目的探讨女性性发育不良与染色体核型异常的关系。方法采用外周血淋巴细胞培养技术,对来我院就诊的性发育缺陷的未婚女性进行常规G显带核型分析。结果 126例未婚女性中,共检出异常染色体核型13例,异常率为10.32%,其中45,XO 7例,性反转46,XY女性3例,等臂染色体46,X,i(Xp)2例,性染色体重复46,X,dup(X)1例。结论染色体核型异常是导致女性性发育缺陷的重要原因之一,对性发育缺陷的患者进行细胞遗传学检查,提供医学指导,减少误诊及不必要的无效治疗具有重要意义.
Objective To investigate the relationship between female sexual dysplasia and chromosomal abnormalities. Methods Peripheral blood lymphocyte culture technique was used to analyze the conventional G-banding karyotypes of unmarried women with sexual developmental defects who visited our hospital. Results Of the 126 unmarried women, 13 abnormal karyotypes were found, with an abnormal rate of 10.32%, of which 45 were XO, 7 were X, 46 were reversed, XY were 3, ) In 2 cases, sex chromosome duplication in 46 cases, X, dup (X) in 1 case. Conclusion Chromosome karyotype abnormality is one of the important causes of female sexual development defects. It is of great significance to carry out cytogenetic examination in patients with sexual development defects, provide medical guidance, reduce misdiagnosis and unnecessary invalid treatment.