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目的探讨上海市遗传性疾病染色体异常的分布情况,对临床遗传性疾病的诊断及咨询作出指导。方法收集上海市6709例遗传咨询者外周血,淋巴细胞培养,秋水仙素使其停止在分裂中期,常规G显带法观察染色体。结果6709例遗传咨询者共检出异常核型263例,异常率3.92%,其中不孕不育病例124例(占总异常病例47.14%),不良孕产史病例56例(21.29%),闭经病例34例(12.93%),低智病例41例(15.59%)。结论染色体异常是不孕不育、流产、胚胎停育及低智和发育迟缓的一个重要原因,因此要大力发展优生优育和产前诊断,积极开展遗传咨询。
Objective To investigate the distribution of chromosomal abnormalities in hereditary diseases in Shanghai and provide guidance for the diagnosis and counseling of clinical hereditary diseases. Methods 6709 cases of genetic counseling in Shanghai were collected from peripheral blood, lymphocyte culture and colchicine to stop the metaphase. Chromosome was observed by G-banding method. Results A total of 6709 cases of genetic counseling were detected in 263 cases of abnormal karyotype, with an abnormal rate of 3.92%. Among them, 124 cases were infertile (47.14% of the total cases), 56 cases (21.29%) were poor infertility, 34 cases (12.93%) and 41 cases (15.59%) of low IQ cases. Conclusion Chromosomal abnormalities are one of the main causes of infertility, miscarriage, suspension of embryos and hypoglossus and retardation. Therefore, it is necessary to vigorously develop prenatal and postnatal diagnosis and prenatal diagnosis, and actively carry out genetic counseling.