一例新发16p11.2微缺失患儿的分子遗传学分析  

Molecular genetic analysis of a child with de novo 16p11.2 microdeletion

作　　者：庄建龙 王元白 曾书红 王俊育 江矞颖 Zhuang Jianlong;Wang Yuanbai;Zeng Shuhong;Wang Junyu;Jiang Yuying

机构地区：[1]泉州市妇幼保健院·儿童医院产前诊断中心,福建362000

出　　处：《中华医学遗传学杂志》2020年第11期1283-1286,共4页Chinese Journal of Medical Genetics

基　　金：泉州市卫生计生科研资助项目(2018-15);泉州市科技计划项目(2019N050S)。

摘　　要：目的探讨1例生长、智力发育迟缓、语言功能障碍患儿的遗传学病因。方法采集患儿及其父母的外周血样,进行常规G显带染色体核型分析以及单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)检测,同时对患儿母亲行羊水穿刺,进行胎儿染色体核型分析及SNP array检测。结果患儿及其父母的染色体核型均未见异常。SNP array检测提示患儿染色体16p11.2区存在761.4 kb缺失(chr16:29428531-30190029),其母亲染色体15q13.3区存在444.4 kb重复(15q13.3:31999631-32444042),父亲未见异常。患儿缺失区涉及16p11.2微缺失综合征相关区域,且表型与之相符。患儿母亲的15q13.3区微重复遗传自其表型正常的父亲。产前诊断胎儿染色体核型未见异常,SNP array检测提示胎儿携带15q13.3微重复。结论患儿所携带的16p11.2微缺失为新发变异,涉及16p11.2微缺失综合征相关区域,且表型与之相符,16p11.2微缺失可能为其致病原因。Objective To explore the genetic basis for a child featuring developmental delay,intelligent disability and language deficit.Methods Peripheral blood samples of the child and her parents were collected for routine G-banding karyotyping analysis and single nucleotide polymorphism array(SNP array)detection.Amniotic fluid was also sampled from the mother for karyotyping analysis and SNP array detection.Results No karyotypic abnormality was found with the child and her parents.SNP array showed that the child has carried a 761.4 kb microdeletion at 16p11.2,while her mother has carried a 444.4 kb microduplication at 15q13.3.Her father’s result was negative.Further analysis showed that the 15q13.3 microduplication was inherited from her maternal grandfather who was phenotypically normal.Prenatal diagnosis showed that the fetus has inherited the 15q13.3 microduplication from its mother.Conclusion The child has carried a de novo 16p11.2 microdeletion,which overlaps with 16p11.2 microdeletion syndrome region,in addition with similar clinical phenotypes.The 16p11.2 microdeletion probably underlies her abnormal phenotype.

关 键 词：16p11.2 15q13.3 微缺失/微重复 单核苷酸多态性微阵列 分子遗传学诊断 

分 类 号：R725.9[医药卫生—儿科]