出生缺陷患儿345例细胞遗传学分析  

Analysis of 345 cases of children with birth defects in cell genetics

作　　者：扶梅妹[1] 黄海龙[1] 薛会丽[1] 安刚[1] 郭南[1] 李英[1] 徐两蒲[1] FU Meimei;HUANG Hailong;XUE Hui-Ii;AN Gang;GUO Nan;LI Ying;XU Liangpu

机构地区：[1]福建省妇幼保健院产前诊断中心福建省产前诊断与出生缺陷重点实验室,福州350001

出　　处：《福建医药杂志》2018年第6期9-12,共4页Fujian Medical Journal

基　　金：福建省自然科学基金资助项目(2017J01238)

摘　　要：目的分析出生缺陷患儿的染色体核型分布特点和临床表现。方法选取我院就诊的345例出生缺陷患儿,行外周血染色体核型分析,部分标本进行了SNP-array基因芯片分析,以明确诊断。结果 345例患儿中临床表现居前三位分别是特殊面容、尿道下裂、智力低下。345患儿中共检出116例染色体异常核型,检出率33.6%。其中常染色体异常105例,占90.5%(105/116);性染色体异常9例,占7.8%(9/116)。常染色体异常中21-三体综合征85例,占总异常的73.3%(85/116)。结论 21-三体综合征在本组病例中发病率最高,应对有染色体异常儿生育史的父母再生育提供指导。Objective To analyse the characteristics of chromosome karyotype distribution and clinical manifestations in children with birth defects.Methods The chromosome karyotypes of 345 children with birth defects in our hospital were analyzed.Some samples were analyzed by SNP-arry gene chip in order to make a definite diagnosis.Results The top three clinical manifestations of 345 patients were special face,hypospadias and mental retardation.A total of 116 cases of abnormal karyotype were detected in 345 children,the detection rate was 33.6%.Among them,105 cases(90.5%,105/116)had autosomal abnormalities and 9 cases(7.8%,9/116)which had sex chromosomal abnormalities.A total of 85 cases had chromosome abnormalities of 21 trisomy,accounting for 73.3%of the total abnormal(85/116).Conclusion 21 trisomy syndrome has the highest incidence in this group.We should provide guidance for parents who have chromosomal abnormalities in childbearing history.

关 键 词：细胞遗传学 异常核型 21-三体综合征 染色体基因芯片分析 

分 类 号：R722.1[医药卫生—儿科]