深圳地区78例原发性闭经患者的细胞遗传学分析

目的探讨原发性闭经患者在细胞遗传学水平上的主要特征和发病机制。方法采用外周血淋巴细胞染色体培养技术进行染色体核型分析。结果 78例原发性闭经患者共检出染色体异常31例,异常检出率为39.74%,主要为46,XY、45,X0嵌合和X染色体数目异常,包括11例46,XY,9例45,X0嵌合,6例45,X0,4例X染色体结构异常。结论染色体异常是导致原发性闭经的重要原因之一,对原发性闭经患者进行细胞遗传学检查对确定病因和治疗方案是非常必要的。

Cytogenentics analysis of 78 primary amenorrhea patients in Shenzhen.

Objective： To explore the the main features of abnormal chromosome karyotype and the pathological causes in patients with primary amenorrhea. Methods： Karyotype analysis was performed by peripheral blood lymphocyte chromosomal culture techniques. Results： In total 78 patients with primary amenorrhea, there were 31 cases of chromosomal abnormalities and abnormal detection rate was 39.74%, and it was mainly involved in sex-reversed, mosaic of 45, XO and the numerical abnormality of chromosome X, including 11 patients with 46, XY, 9 patients with mosaic of 45, XO, 6 patients with 45, XO, 4 patients with structural abnormalities of X chromosome. Conclusion： Chromosomal abnormality is one of the major causes of primary amenorrhea, chromosome examination in primary amenorrhea patients is important to determine its pathological causes and treatment options.