染色体微阵列分析技术对1例携带额外小标记染色体患儿的遗传学分析  

Genetic analysis of a child with small supernumerary marker chromosomes by chromosomal microarray analysis

作　　者：章霞 尹燕军 付志璇 柯江维[1] ZHANG Xia;YIN Yanjun;FU Zhixuan;KE Jiangwei(Department of Clinical Laboratory,the Children's Hospital of Jiangxi Province,Nanchang 330000,Jiangxi,China)

机构地区：[1]江西省儿童医院检验科,江西南昌330000

出　　处：《检验医学》2025年第2期131-134,共4页Laboratory Medicine

基　　金：江西省卫生健康委员会科技计划项目(20203686)。

摘　　要：目的通过分析1例智力低下、发育迟缓患儿额外小标记染色体(sSMC)的来源,探讨其发生机制,为临床遗传咨询提供依据。方法采用常规G显带技术对患儿及其父母的外周血进行染色体核型分析,采用染色体微阵列分析(CMA)技术对患儿进行全基因组拷贝数变异(CNV)分析,以明确患儿sSMC的来源、区域和片段大小。结果患儿染色体核型分析结果为47,XX,+mar,其父母染色体核型分析结果未见异常。CMA检测结果显示,患儿在chr15q11.2q13.3区域发生9.7 Mb片段的重复(拷贝数为4),为临床致病性CNV。该区段与dup(15)综合征相关。结论由于sSMC的来源多样性,需在传统染色体核型分析的基础上结合CMA确定其来源、区域和片段大小,为患儿的诊断、治疗和临床遗传咨询提供依据。Objective To analyze the origin of small supernumerary marker chromosomes(sSMC)of a mental decline and developmental delay child,and to investigate its mechanism and provide a reference for clinical genetic counseling.Methods Peripheral blood of the child and her parents was analyzed with conventional G-banding.Chromosomal microarray analysis(CMA)was performed to analyze the whole-genome copy number variations(CNV)in order to identify the origin,region and size of sSMC.Results The karyotype of the parents was normal,and the karyotype was 47,XX,+mar.CMA showed that the child had a duplication of 9.7 Mb in chr15q11.2q13.3(copy number was 4),which was clinical pathogenic CNV correlating with dup(15)syndrome.Conclusions Because of the diversity of the origin of sSMC,it is necessary to combine CMA with traditional chromosome karyotype analysis to identify the origin,region and size of sSMC,so as to provide a reference for the diagnosis,treatment and clinical genetic counseling for children.

关 键 词：额外小标记染色体 常规G显带技术 染色体微阵列分析技术 全基因组拷贝数变异 

分 类 号：R446.1[医药卫生—诊断学]