广西柳州地区729例身材矮小儿童染色体核型分析

Chromosomal karyotype analysis in 729 children with short stature in Liuzhou,Guangxi

目的回顾性分析广西壮族自治区柳州地区身材矮小儿童的染色体核型,探讨儿童身材矮小细胞遗传学方面的原因。方法对2018年3月至2019年12月在广西壮族自治区柳州市妇幼保健院就诊的729例身材矮小的儿童外周血染色体核型分析的结果进行回顾性分析,统计其异常核型的类型及其比例。结果729例矮小儿童中,共有41例检出携带异常核型,异常率为5.6%。异常核型以染色体多态性为主[15(36.6%)],性染色体异常次之[14(34.1%)],其中Turner综合征核型12例,其他易位、倒位及衍生染色体异常[9(22.0%)],标记染色体[3(7.3%)]。结论染色体异常是本地区儿童身材矮小的重要原因之一,对身材矮小儿童进行外周血染色体核型分析具有重要意义。

Objective To retrospectively analyze the karyotypes of children with short stature in Liuzhou,Guangxi,and to explore the causes of cytogenetic aspects of short stature in children.Methods The results of peripheral blood karyotype analysis of 729 cases of children with short stature attending Liuzhou Maternity and Child Healthcare Hospital,Guangxi from March 2018 to December 2019 were retrospectively analyzed,and the types of abnormal karyotypes and their proportions were counted.Results Among the 729 children with short stature,41 cases were detected to carry abnormal karyotypes,with an abnormal rate of 5.6%.The abnormal karyotypes were mainly chromosomal polymorphisms(15[36.6%]),followed by sex chromosome abnormalities(14[34.1%]),including 12 cases of Turner syndrome karyotype,other translocation,inversion and derivative chromosome abnormalities(9[22.0%]),and marker chromosomes(3[7.3%]).Conclusion Chromosomal abnormality is one of the important causes of short stature in children in this region,and it is of great significance to perform analysis of peripheral blood karyotyping in children wi th short stature.