原发性闭经427例患者染色体核型分析

目的对原发性闭经患者进行细胞遗传学分析，探讨原发性闭经与染色体异常的关系，用以指导临床诊断及处理。方法对427例原发性闭经患者进行外周血淋巴细胞培养、染色体制备及核型分析。结果427例原发性闭经患者中共检出染色体异常核型118例，异常检出率为27．6％（118／427）。性染色体异常中，X染色体数目异常59例、结构异常25例、嵌合体24例，其中有单纯X染色体与常染色体平衡易位l例，合并X的部分缺失2例。常染色体结构异常10例，包括染色体倒位（4例）、平衡易位（4例）以及染色体大小异常（2例），涉及到第6、7、9、14、15、16、22号常染色体。结论结合临床表现、影像学检查以及染色体核型检查，可以为原发性闭经患者寻找病因提供理论依据，同时有利于处理措施的制定。

Chromosome analysis of 427 cases with primary amenorrhea

Objective To carry out chromosome analysis of patients with primary amenorrhea and investigate the relationship between primary amenorrhea and chromosome abnormalities, so as to guide clinical diagnosis and treatment. Methods Peripheral blood lymphocyte culture, chromosome preparation and karyotype analysis were done to 427 cases of patients with primary amenorrhea. Results There were 118 cases of abnormal chromosome karyotype with primary amenorrhea, and the anomaly detection rate was 27.6% （118/427）. In cases with sex chromosome abnormalities, there were 59 patients with numerical abnormalities of X chromosome, 25 patients with X chromosome structural abnormality, and 24. cases of mosaicism. Among them, there was one case of simple reciprocal translocation between X chromosome and autosome, and two cases of consolidation with terminal deletion of X chromosome. There were cases of autosomal structural abnormalities, including chromosomal inversion （4 cases）, balanced translocation （4 cases） and abnormal chromosome size （2 cases）. Autosomal abnormalities happened on the sixth, seventh, ninth, fourteenth, fifteenth, sixteenth and twenty-second chromosome. Conclusion Clinical manifestations, imaging inspection and chromosome examination can provide theoretical ,evidence for seeking the causes of primary amenorrhea patients. At the same time, it is conducive to formulating treatment measures.