200例原发性闭经患者细胞遗传学分析 [中文引用][英文引用]

目的 探讨女性原发性闭经与性染色体异常的关系。方法 对本院2013年1月至2017年12月就诊的200例原发性闭经患者进行外周血染色体核型分析。结果 200例原发性闭经患者中共检出50例性染色异常，异常比例25%。其中X染色体数目异常16例（8%）；X染色体结构异常8例（4%）；X染色体数目伴结构异常15例（7.5%），含Y染色体11例（5.5%）。结论 性染色体异常是女性原发性闭经的重要原因，对患者行外周血染色体核型分析，必要时行比较基因组杂交检测，对明确其病因以及选择治疗方法具有非常重要的意义。

Objective To investigate the relationship between primary amenorrhea and abnormal sex chromosome karyotype abnormality in female. Method A total of 200 patients with primary amenorrhea were enrolled in our hospital from January 2013 to December 2017 for peripheral blood chromosome karyotype analysis. Results Of the 200 patients with primary amenorrhea, 50 cases were abnormal in chromosome karyotype, the abnormal rate was 25%.X chromosome number abnormality in 16 cases，accounting for8%；X chromosome structure abnormalities in 8 cases，accounting for 4%；X chromosome number with structural abnormalities in 15 cases，accounting for 7.5%，with Y chromosome in 11 case，accounting for 5.5%. Conclusions Sex chromosome abnormality is an important cause of primary amenorrhea in female. It is of great significance to analyze the karyotype of peripheral blood chromosomes and to detect comparative genomic hybridization if necessary for the determination of the etiology and the choice of treatment methods.