185例原发闭经患者的细胞遗传学分析  

Cytogenetic Analysis of 185 Cases of Primary Amenorrhea

作　　者：黄婷婷[1] 葛运生 孔辉 HUANG Tingting;GE Yunsheng;KONG Hui(Central Laboratory,Women's and Children's Hospital Affiliated to Xiamen University/Xiamen Maternal and Child Health Hospital,Xiamen Fujian 361000,China)

机构地区：[1]厦门大学附属妇女儿童医院/厦门市妇幼保健院中心实验室

出　　处：《中国卫生标准管理》2019年第20期122-124,共3页China Health Standard Management

摘　　要：目的探讨原发闭经患者中染色体异常分布特征情况,以期为临床提供一定的诊疗依据。方法通过采集2010年1月-2018年12月的185例原发闭经患者的外周血进行淋巴细胞培养,然后常规方法制备染色体并进行核型分析。结果185例原发闭经患者中检出异常核型82例,异常率44.32%(82/185),异常核型涉及X染色体的数目异常和结构异常以及46,XY的性反转异常。结论性染色体异常是原发闭经的主要原因之一,而其中45,X及其嵌合体是门诊原发闭经就诊患者的首要遗传因素,对性染色体异常患者应早发现早诊断,从而开展相应的干预措施,提高患者的生活质量。Objective To investigate the distribution characteristics of chromosomal abnormalities in patients with primary amenorrhea,so as to provide clinical basis for diagnosis and treatment.Methods Peripheral blood samples from 185 patients with primary amenorrhea from January 2010 to December 2018 were collected for lymphocyte culture.Chromosomes were prepared by routine methods and karyotype analysis was performed.Results 82 cases(44.32%,82/185)of 185 patients with primary amenorrhea were found abnormal karyotype.Abnormal karyotypes involve abnormalities in the number and structure of the X chromosome and abnormalities in the sexual inversion of 46,XY.Conclusion Sex chromosome abnormality is one of the main causes of primary amenorrhea,among which 45,X and their chimeras are the primary genetic factors for outpatients with primary amenorrhea.Early diagnosis should be made for patients with sex chromosome abnormality so as to carry out appropriate interventions to improve the quality of life of patients.

关 键 词：原发闭经 核型分析 染色体异常 嵌合体 TURNER综合征 性反转综合征 

分 类 号：R197[医药卫生—卫生事业管理]