出生缺陷和(或)发育迟缓儿童的染色体核型分析

Karyotype analysis of children with birth defects and(or) growth retardation

目的探讨染色体核型分析异常的不同类型与出生缺陷和(或)生长发育迟缓的关系。方法采集671例临床表现有出生缺陷和(或)生长发育迟缓的儿童外周静脉血进行染色体核型分析。结果671例儿童中共检出染色体异常核型141例(21.01%),其中常染色体异常核型72例(51.06%),性染色体异常核型21例(14.89%),X染色体与常染色体平衡易位1例(0.71%),标记染色体嵌合体1例(47,XX,+mar[71]/46,XX[29])(0.71%),染色体多态性核型46例(32.62%)。72例常染色体异常核型中包括52例21-三体(51例单纯型,1例罗氏易位型),1例18-三体和19例常染色体结构异常(11例平衡易位,4例罗氏易位,4例其他结构异常)。21例性染色体异常核型中包括15例Turner综合征,1例47,XXX,3例47,XXY,2例47,XYY。46例染色体多态核型中包括15例qh^-,21例qh^+,5例pstk^+,5例inv(9)。结论21-三体、Turner综合征是引起出儿童生缺陷和(或)发育迟缓的主要原因,染色体多态性在生长发育异常的儿童中检出率高于正常人群。

Objective To explore the relationship between several types of chromosomal abnormalities and birth defects or growth retardation in children.Methods The peripheral venous blood were collected for chromosomal karyotype analysis in 671 children with birth defects or growth retardation.Methods Abnormal chromosome karyotype were detected in 141(21.01%)cases of 671 children.Among the 141 cases,72(51.06%)cases were euchromosome abnormality,21(14.89%)cases were sex chromosome abnormality,1(0.71%)cases was X chromosome and autosomal balanced translocation,1(0.71%)cases was chromosome chimera,and 46(32.62%)cases were chromosome polymorphism karyotype.Among 72 cases of euchromosome abnormality,52 cases were 21-trisomy(51 cases of simple type,1 case of Roche translocation type),1 case were 18-trisomy and 19 cases were autosomal structural abnormality,which including 11 cases of balanced translocation,4 cases of Robertsonian translocation and 4 cases of other structural abnormality.Among 21 cases of sex chromosome abnormality,15 cases were Turner syndrome,1 case was 47,XXX,3 cases were 47,XXY and 2 cases were 47,XYY.Among 46 cases of chromosome polymorphic karyotypes,15 case were qh^-,21 cases were qh^+,5 cases were pstk^+,5 cases were inv(9).Conclusion Down′s syndrome and Turner syndrome are still main causes of birth defects and development abnormality in children.The detection rate of chromosome polymorphism in children with abnormal growth and development is higher than that in normal people.