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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。
Objective To explore the relationship between primary amenorrhea patients and chromosomal aberrations. Methods 200 primary amenorrhea patients were selected in our hospital. Peripheral blood cultures, chromosome karyotype analysis and gynecological examination were performed on each patient. Results Of the 200 cases of primary amenorrhea patients, 90 cases were found abnormal karyotype, the detection rate of abnormal karyotype was 45% (90/200). In the abnormal karyotypes detected, 48 patients (53.3%) had Turner syndrome (46/90); 46, XY patients (21.1%, 19/90); Chimera / chromosomal abnormalities 25.6% (23/90). Conclusions Anomalous structure or number of sex chromosomes can lead to the short stature, gonadal hypoplasia, hermaphroditism, infertility, amenorrhea and other clinical manifestations. Through the analysis of the karyotype of the cell chromosomes, it not only provides a theoretical basis for finding the cause of the primary amenorrhea patients, but also helps to provide scientific guidance for the treatment of the patients.