罕见染色体13q22.1-13q31.3缺失综合征男婴的诊治及文献复习  

Rare chromosome 13q22.1-13q31.3 deletion sydrome:a case report and literature review

作　　者：庄建龙 傅婉玉 陈文莉 江矞颖 曾书红 王元白 吴小霞 Zhuang Jianlong;Fu Wanyu;Chen Wenli;Jiang Yuying;Zeng Shuhong;Wang Yuanbai;Wu Xiaoxia(Prenatal Diagnosis Center,Quanzhou Women's and Children's Hospital,Quanzhou 362000,Fujian Province,China)

机构地区：[1]福建省泉州市妇幼保健院·儿童医院产前诊断中心,泉州362000

出　　处：《中华妇幼临床医学杂志（电子版）》2022年第3期337-342,共6页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：福建省卫生健康科技计划项目(2020QNB045)。

摘　　要：目的探讨染色体13q22.1-13q31.3缺失患儿的临床特征、染色体核型分析及染色体微阵列技术(CMA)检测结果。方法选择2019年2月12日,于泉州市妇幼保健院·儿童医院康复科诊治的1例确诊为染色体13q22.1-13q31.3部分缺失的5个月龄男婴为研究对象。对本例男婴的染色体核型及单核苷酸多态性微阵列(SNP-array)检测结果进行回顾性分析。以"13q"或"13q22"或"13q31"和"缺失"等为中、英文关键词,在万方数据知识服务平台、中国知网及PubMed等数据库中,对有关13q22.1-13q31.3缺失患者的研究文献进行检索。文献检索年限设定为2002年6月至2022年6月。本研究遵循的程序符合泉州市妇幼保健院·儿童医院伦理委员会规定,并获得该伦理委员会批准(审批文号:2020-31)。结果①本例男婴染色体核型为46,XY,del(13)(q32),SNP-array检测结果为染色体13q22.1-13q31.3存在19.5 Mb缺失,缺失片段内含在线人类孟德尔遗传(OMIM)的MIR17HG(609415)、POU4F1(601632)和EDNRB(131244)等30个基因。根据本例男婴临床表型及查询相关数据库,其染色体13q22.1-13q31.3缺失被判读为致病性染色体拷贝数变异(CNV)。②文献复习结果:根据本研究设定的检索策略,共计检索到4篇相似区段染色体缺失研究相关英文文献,纳入研究患儿为4例,其分别为染色体13q21.1-13q31.1缺失(男性,确诊时年龄为13个月),13q21.32-13q31.1缺失(男性,确诊时年龄为20岁),13q22q31缺失(男性,确诊时年龄为9岁),13q22.2-13q31.1缺失(女性,确诊时年龄为1岁)。结论本例男婴的染色体13q22.1-13q31.3部分缺失为国内首次报道,尚需进一步明确13q近端缺失与临床表型的关系。CMA技术有助于进一步明确染色体缺失片段长度及位置。Objective To investigate clinical features,karyotype analysis and detection results of chromosomal microarray(CMA)technology of a baby boy with chromosome 13q22.1-13q31.3 deletion sydrome.Methods On February 12,2019,a baby boy who was admitted to the Department of Rehabilitation of Quanzhou Women's and Children's Hospital was enrolled in this study at his age of 5 months.The results of chromosome karyotype and single nucleotide polymorphism array(SNP-array)detection were retrospectively analyzed.With"13q"or"13q22"or"13q31"and"deletion"as keywords in Chinese and English,literature related to 13q22.1-13q31.3 deletion was retrieved in Wanfang Data Knowledge Service Platform,CNKI,and PubMed Database.Search period was set from June 2002 to June 2022.The procedure followed in this study met the standards formulated by the Ethics Review Committee of Quanzhou Women's and Children's Hospital and has been approved by it(Approval No.2020-31).Results①The chromosome karyotype result of the baby boy showed that his karyotype was 46,XY,del(13)(q32).Detection result of SNP-array demonstrated a 19.5 Mb deletion in 13q22.1-13q31 region of chromosome 13,Among chromosome deletion,30 genes in Online Mendelian Inheritance in Man(OMIM)were included,such as MIR17HG(609415),POU4F1(601632)and EDNRB(131244).Reference relevant databases,combination of clinical phenotype and deletion of the baby boy were interpreted as pathogenic copy number variants(CNV).②Literature review results elicited a total of 4 pieces of English literature with 13q22.1-13q31.3 deletion were retrieved according to the retrieval strategy set in this study.Their deletion regions were 13q21.1-13q31.1(boy,13 months old),13q21.32-13q31.1(boy,20 years old),13q22-13q31(boy,9 years old)and 13q22.2-13q31.1(girl,1 year old)deletion.Conclusions Chromosome deletion in 13q22.1-13q31.3 of the baby boy is reported for the first time in China,which is a rare chromosome deletion.The relationship between 13q proximal deletion and phenotype is further clarified.CMA technology would

关 键 词：染色体核型 微阵列分析 13q22.1-13q31.3缺失 分子诊断技术 DNA拷贝数变异 儿童 

分 类 号：R725.9[医药卫生—儿科]