罕见的8p部分缺失伴重复患儿1例的临床及遗传学分析  

Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication

作　　者：陈新英 潘汉斌 曾书红 江矞颖 王元白 庄建龙 Chen Xinying;Pan Hanbin;Zeng Shuhong;Jiang Yuying;Wang Yuanbai;Zhuang Jianlong(Prenatal Diagnosis Center,Quanzhou Women′s and Children′s Hospital.Quanzhou,Fujian 362000,China;Fujian Medical University,Fuzhou,Fujian 350004,China;Departmeng of Gynecology,Quanzhou Women′s and Children′s Hospital,Quanzhou,Fujian 362000,China)

机构地区：[1]泉州市妇幼保健院·儿童医院产前诊断中心,泉州362000 [2]福建医科大学,福州350004 [3]泉州市妇幼保健院·儿童医院妇科,泉州362000

出　　处：《中华医学遗传学杂志》2023年第1期96-100,共5页Chinese Journal of Medical Genetics

基　　金：福建省卫生健康委员会青年科研项目(2020QNB045)。

摘　　要：目的明确1例智力低下、语言发育迟缓及自闭症患儿的遗传学病因。方法选取2019年6月30日于泉州市妇幼保健院就诊的1例罕见8p部分缺失伴重复患儿为研究对象。采集患儿及其父母的外周血样,进行G显带染色体核型分析以及单核苷酸多态性微阵列(SNP-array)检测。结果患儿核型为46,XX,dup(8p?),其父母均未见明显异常。SNP-array检测显示患儿染色体8p23.3p23.1区存在6.8 Mb的片段缺失,8p23.1p12区存在21.8 Mb的片段重复,上述拷贝数变异均为新发,并判断为致病变异。结论患儿的临床表型与染色体8p部分缺失重复相关,SNP-array检测对智力低下的患儿的诊断具有一定的价值。Objective To explore the genetic etiology for a child featuring mental retardation,language delay and autism.Methods G-banding chromosomal karyotyping and single nucleotide polymorphism array(SNP-array)were carried out for the child and her parents.Results The child was found to have a 46,XX,dup(8p?)karyotype,for which both of her parents were normal.SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12,both of which were verified as de novo pathogenic copy number variants.Conclusion The clinical features of the child may be attributed to the 8p deletion and duplication.SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.

关 键 词：8p微缺失/微重复 单核苷酸多态性微阵列 智力障碍 

分 类 号：R725.9[医药卫生—儿科]