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.
作者
张俊荣
张建林
杨益梅
王珊珊
姚锋
张玉泉
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)
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)
关键词
遗传咨询
细胞遗传学
异常染色体
Genetic conselling
Cytogenetics
Abnormal karyotype
作者简介
通讯作者:张玉泉。
