上海地区6709例遗传咨询者外周血淋巴细胞染色体分析  

Karyotype analysis of 6709 cases heredity consultants from Shanghai

作　　者：吴怡[1] 王骏[1] 吴景怡[1] 王慧[1] 赵欣荣[1] 沈颖华[1] 潘顺[1] 高佳琪[1] 

机构地区：[1]上海交通大学医学院附属国际和平妇幼保健院检验科,200030

出　　处：《中国优生与遗传杂志》2009年第5期60-62,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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 distributing status of hereditary chromosome diseases in Shanghai, provide information for clinic making diagnoses of hereditary diseases and reduce hereditary diseases. Methods： 6709 cases of patients collected from heredity consultants clinic of International Peace Maternity ＆ Child Health Hospital in Shanghai were detected by lymphocyte chromosome G -banding method in peripheral blood. Results： The results shown that all of the 263 （3.92%） in 6709 cases of patients from heredity consultants clinic were abnormal karyotypes. Among 124 cases （47.14%） are infertility patients, 56 cases （21.29%） are patients with the history of abnormal pregnancy, 34 cases （ 12. 93% ） are patients of amenorrhea, 41 cases （ 15.59% ） are patients of mental and growth retardation. Conclusion： Chromosome abnormalities are the important reason leading to children mental retardation, amentia as well as infertility and abortion in adults.

关 键 词：染色体核型分析 遗传性疾病 遗传咨询 

分 类 号：R394[医药卫生—医学遗传学]