携带10号染色体长臂部分重复变异1例患儿的临床表型及遗传学分析并文献复习  

Clinical phenotype and genetic analysis of a child with partial duplication of 10q and a literature review

作　　者：郑安舜[1] 尹婷[1] 郑芹[2] 章荣[1] 王永安 马姗姗 赵亚丽 王雷雷[1] Zheng Anshun;Yin Ting;Zheng Qin;Zhang Rong;Wang Yongan;Ma Shanshan;Zhao Yali;Wang Leilei(Central Laboratory,Lianyungang Maternal and Child Health Hospital,Lianyungang,Jiangsu 222023,China;Department of Child Growth&Development,Lianyungang Maternal and Child Health Hospital,Lianyungang,Jiangsu 222023,China)

机构地区：[1]连云港市妇幼保健院中心实验室,连云港222023 [2]连云港市妇幼保健院儿童生长发育科,连云港222023

出　　处：《中华医学遗传学杂志》2024年第11期1371-1378,共8页Chinese Journal of Medical Genetics

基　　金：连云港市妇幼健康项目(F202009);连云港市重点研发计划(社会发展)项目(SF2317)。

摘　　要：目的探讨1例携带10号染色体长臂(10q)部分重复变异患儿的临床表型,对其进行遗传学分析,并对携带10q部分重复变异患者相关文献进行复习。方法选择2018年4月在连云港市妇幼保健院首次就诊,并于2023年6月在本院复诊的1例临床表现为生长发育落后、智力障碍及孤独症谱系障碍(ASD)的携带10q部分重复变异患儿作为研究对象。采集患儿及其父母外周血,进行淋巴细胞G显带染色体核型分析。提取患儿外周血DNA,并采用染色体微阵列分析(CMA)对其DNA进行遗传变异检测。于美国在线人类孟德尔数据库(OMIM)与英国ensembl人类基因组变异和表型数据库(DECIPHER)中,对患儿染色体变异相关临床表型和变异覆盖基因进行检索。根据美国医学遗传学与基因组学学会(ACMG)《遗传变异分类标准与指南》制定的拷贝数变异(CNV)解释评分框架,对患儿染色体变异致病性进行分析。分别以"10号染色体长臂""重复""三体"与"10q""duplication"和"trisomy"为中、英文关键词,在中国知网数据库、万方数据知识服务平与美国PubMed数据中,检索与患儿染色体变异特征相似的携带10q部分重复变异患者相关研究文献。检索时限设定为各数据库建库至2023年12月1日。本研究遵循的研究程序经连云港市妇幼保健院医学伦理委员会的审查(审批文号:XM2023030)。结果①本研究患儿临床表型为生长发育落后、智力障碍及ASD。患儿及其父母外周血淋巴细胞G显带染色体核型分析结果显示,患儿染色体核型为46,XY,dup(10)(q23.31q24.33),染色体10q23.31q24.33区存在重复,其父母染色体核型均未见异常。患儿外周血DNA的CMA检测结果为arr[19]10q23.31q24.33(87603382_104948862)×3,其10q23.31q24.33区存在长度约为17.34 Mb片段重复。OMIM数据库检索结果显示,该重复片段包含171个与人类遗传性疾病相关的基因;DECIPHER数据库检索结果显示,该重复片段变异相关疾Objective To explore the clinical phenotype and pathogenesis of a child with partial duplication in the long arm of chromosome 10(10q),and conduct a review of relevant literature.Methods A child presented at Lianyungang Maternal and Child Health Care Hospital in April 2018 for growth retardation,intellectual disability,and autism spectrum disorder(ASD)was selected as the study subject.Peripheral blood samples were collected from the child and his parents for G-banded chromosomal karyotyping analysis.Genomic DNA was also extracted for chromosomal microarray analysis(CMA).The clinical phenotype and relevant genes were searched in the Online Mendelian Inheritance in Man(OMIM)and the UK Database of Genomic Variation and Phenotype in Humans using Ensembl Resources(DECIPHER).The pathogenicity of chromosomal variation was analyzed based on guidelines from the American College of Medical Genetics and Genomics(ACMG).Relevant literature was searched from the CNKI,Wanfang Data,and PubMed databases by using keywords such as"10q""duplication"and"trisomy",with the time set as from the establishment of database to December 1,2023.This study has been approved by the Medical Ethics Committee of the Lianyungang Maternal and Child Health Care Hospital(No.XM2023030).Results The clinical phenotype of child had included growth retardation,intellectual disability,and ASD.G-banded chromosomal analysis suggested that the child has a karyotype of 46,XY,dup(10)(q23.31q24.33),whilst both of his parents were normal.CMA analysis of the child revealed that the child was arr[19]10q23.31q24.33(87603382_104948862)×3,with a 17.34 Mb duplication in the 10q23.31q24.33 region.Search of the OMIM database suggested that the duplicated segment has contained 171 genes associated with various diseases,and search of the DECIPHER database has identified cases with overlapping with the duplication.A search of the PubMed database has identified 2 publications involving 2 patients with chromosomal duplications overlapping the 10q23.31q24.33 region with a segm

关 键 词：染色体重复 儿童发育障碍 广泛性 孤独症谱系障碍 智力障碍 染色体显带 微阵列分析 儿童 

分 类 号：R725.9[医药卫生—儿科]