南通地区366例遗传咨询患者细胞遗传学分析  

Cytogenetical analysis of 366 cases of genetic counselling in Nantong area

作　　者：张俊荣[1] 张建林[1] 杨益梅[1] 王珊珊[1] 姚锋[1] 张玉泉[1] ZHANG Jun-rong;ZHANG Jian-lin;YANG Yi-mei;WANG Shan-shan;YAO Feng;ZHANG Yu-quan(Department of Obstetrics and Genecology,the Affiliated Hospital of Nantong University,Nantong,Jiangsu Province 226001)

机构地区：[1]南通大学附属医院妇产科

出　　处：《中国优生与遗传杂志》2019年第10期1183-1185,共3页Chinese Journal of Birth Health & Heredity

基　　金：南通市科技计划项目（MS218112）;南通市科技计划项目(HS2014073)

摘　　要：目的探讨临床上遗传咨询患者的外周血染色体核型异常发生的情况。方法对366例患者行外周血淋巴细胞培养制备染色体,G显带分析。结果在366例遗传咨询患者中,检测出染色体异常42例,异常率为11.48%。其中,染色体数目异常26例,染色体结构异常16例。结论染色体异常是南通地区遗传咨询患者前来咨询的一个重要原因,对指导临床诊疗具有重要价值和意义。Objective:To discuss the occurrence of abnormal karyotype of genetic conselling in clinical cases.Methods:Peripheral lymphocyte blood from 366 genetic consultants was cultured for karyotype ananlysis through G-banding.Results:There were 42 chromsomal abnormality in total of all the 366 cases,including 26 numeral abnormality and 16 structural abnormality.The total abnormality rate took up 11.48%in all cases.Conclusion:Chromosomal abnormality is an important factor in genetic counselling in Nantong area,it is of great value and significance in diagnosis and treatment for these patients.

关 键 词：遗传咨询 细胞遗传学 异常染色体 

分 类 号：R596.1[医药卫生—内科学]