枣庄地区200例原发闭经患者的细胞遗传学分析

目的探讨原发闭经患者与细胞染色体异常的关系。方法选择在我院就诊的原发闭经患者200例,对每例患者进行外周血培养、染色体核型分析和妇科检查。结果在200例原发闭经患者中,检查出核型异常90例,异常核型检出率为45%（90/200）。在检出的异常核型中,Turner综合征患者48例,占53.3%（48/90）;46,XY 19例,占21.1%（19/90）;嵌合体/染色体结构异常23例,占25.6%（23/90）。结论性染色体结构或数目异常,可导致患者身材矮小、性腺发育不全、两性畸形、不孕、闭经等临床表现。通过细胞染色体核型分析,不仅为原发闭经患者寻找病因提供了理论依据,而且有利于对患者的治疗进行科学指导。

The results of cytogenetic analysis on 200 cases of primary amenorrhea patients

Objective： To investigate the primary amenorrhea patients with chromosomal abnormalities relationship. Methods： In our hospital 200 patients with primary amenorrhea, for each patient blood culture, karyotype analysis and gynecological examination. Results： In 200 cases of primary amenorrhea, check out the abnormal karyotype 90 cases, abnormal karyotype was detected in 45% （90/200） . In the detection of abnormal karyotype, Turner syndrome in 48 cases, accounting for 53.3% （48/90）; 46, XY 19 cases, accounting for 21.1% （19/90） ; chimera/structural chromosome abnormalities in 23 cases, accounting for 25.6% （23/90） . Conclusion： Concluding chromosome structure or number of abnormalities can cause the patient short stature, gonadal dysgenesis, hermaphroditism, infertility, amenorrhea and other clinical manifestations. Through cell karyotype analysis, not only for the patient to find the cause of primary arnenorrhea provides a theoretical basis, but also help to guide treatment for patients.