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目的 探讨女性原发性闭经与染色体核型异常的关系.方法 对我院门诊2012年1月至2017年6月就诊的124例原发性闭经患者进行外周血染色体核型分析.结果 124例原发性闭经患者中检出38例染色体核型异常,异常比例30.64％.其中X染色体数目异常20例、占52.63％;X染色体结构异常10例,占26.32％;X染色体数目伴结构异常5例,占13.16％,含Y染色体1例,占2.63％,常染色体异常2例,占5.26％.结论 性染色体异常是女性原发性闭经的重要原因,对患者进行外周血染色体核型分析,对于明确其病因以及选择治疗方法具有重要意义.“,”Objective:To investigate the relationship between primary amenorrhea and chromosome karyotype abnormality in female.Methods:A total of 124 patients with primary amenorrhea were enrolled in our hospital from January 2012 to June 2017 for peripheral blood chromosome karyotype analysis.Results:Of the 124 patients with primary amenorrhea,38 cases were abnormal chromosome karyotype,the abnormal proportion was 30.64％.X chromosome number abnormality in 20 cases,accounting for 52.63％;X chromosome structure abnormalities in 10 cases,accounting for 26.32％;X chromosome number with structural abnormalities in 5 cases,accounting for 13.16％,with Y chromosome in 1 case,accounting for 2.63％,autosomal abnormalities 2 Cases,accounting for 5.26％.Conclusion:Sex chromosome abnormality is an important cause of primary amenorrhea in women.It is important to analyze the hematopoietic karyotype of peripheral blood and to select the treatment method.