110例遗传咨询儿童染色体核型分析  

Analysis on chromosomal karyotype of 110 children receiving genetic counseling

作　　者：李忻[1] 张韫[1] 杨鑫[1] 靳耀英[1] 刘轩[1] 

机构地区：[1]中日友好医院临床医学研究所,北京100029

出　　处：《中国妇幼保健》2011年第4期560-562,共3页Maternal and Child Health Care of China

摘　　要：目的:探讨110例遗传咨询儿童染色体异常核型的频率和类型。方法:对临床诊断为先天愚型、发育落后、智力低下、先天畸形等儿童进行外周血染色体核型分析。结果:发现染色体异常核型36例,异常检出率为32.73%;其中常染色体异常核型22例,占20.00%,占异常数的61.11%,性染色体异常核型14例,占12.73%,占异常数的38.89%。结论:染色体畸变是引起儿童出生缺陷的重要原因之一,对于临床怀疑为遗传综合征的患儿应做染色体检查。Objective：To explore the frequency and type of abnormal chromosomal karyotype of 110 children receiving genetic counseling.Methods：The children diagnosed as mongolism,development retardation,mental retardation and congenital malformations received chromosomal karyotype analysis in peripheral blood.Results：36 children were found with abnormal chromosomal karyotype,the detection rate was 32.73%,including 22 children（61.11%） with abnormal autosome karyotype,accounting for 20.00%;14 children（38.89%） with abnormal sex chromosome karyotype,accounting for 12.73%.Conclusion：Chromosomal aberration is the main cause of birth defects,the children suspicious of genetic syndrome should receive chromosomal examination.

关 键 词：遗传咨询 儿童 染色体异常 

分 类 号：R596.1[医药卫生—内科学]