18q末端缺失综合征伴主动脉瓣关闭不全1例患儿的遗传学分析及文献回顾  

Genetic analysis of a child with 18q terminal deletion and aortic regurgitation and a literature review

作　　者：崔慧敏 张芳 尹婷[1] 王志伟 王鑫[1] 顾青青 张璟璐[1] 谭娟[1] Cui Huimin;Zhang Fang;Yin Ting;Wang Zhiwei;Wang Xin;Gu Qingqing;Zhang Jinglu;Tan Juan(Lianyungang Maternal and Child Health Care Hospital,Lianyungang,Jiangsu 222000,China)

机构地区：[1]连云港市妇幼保健院,连云港222000

出　　处：《中华医学遗传学杂志》2024年第10期1259-1263,共5页Chinese Journal of Medical Genetics

基　　金：连云港市卫生科技项目(202126);连云港市科技计划项目(SF2317)。

摘　　要：目的探讨1例18q末端缺失综合征患儿的遗传学特征。方法选取2023年7月20日于连云港市妇幼保健院就诊的1例18q末端缺失综合征患儿作为研究对象,回顾性分析患儿的临床资料。抽取患儿的外周血样,进行染色体G显带核型分析和染色体微阵列分析(CMA),对患儿父母的外周血样进行染色体G显带核型分析。在中国知网、万方数据知识服务平台以及PubMed数据库中以"18q-综合征""18q缺失综合征""18q-syndrome""18q deletion syndrome""18q terminal deletion"为关键词,检索2013年11月1日至2023年11月1日合并心脏发育异常的文献并进行分析。本研究通过江苏省连云港市妇幼保健院医学伦理委员会的审查(伦理号:LYG-MER2021017)。结果患儿为4岁6月龄女性,表现为身材矮小、智力低下、特殊面容、主动脉瓣关闭不全、双侧外耳道闭锁以及脑白质影像学改变。其外周血G显带核型为46,XX,del(18)(q21),CMA检测结果为arr[GRCh37]18q21.33q23(60065821_77317445)×1,患儿父母染色体核型均未见异常。文献回顾共检索到7篇文献,共涉及11个病例,所有病例均存在18q23区域缺失。18q末端缺失综合征心脏发育异常表型多样,以肺动脉狭窄(27.3%,3/11)、房间隔缺损(27.3%,3/11)和室间隔缺损(27.3%,3/11)最为常见。结论18q末端缺失可能是导致患儿生长智力发育迟缓、特殊面容、心脏发育异常、外耳道闭锁以及脑白质发育不良的遗传学病因。ObjectiveTo explore the genetic characteristics of a child with 18q terminal deletion syndrome.MethodsClinical data of a child presented at the Lianyungang Maternal and Child Health Care Hospital on July 20,2023 was collected.Peripheral blood sample from the child was subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis(CMA).Relevant literature was searched from CNKI,WanFang and PubMed databases over the past decade(from November 1,2013 to November 1,2023)using keywords including"18q-syndrome","18q deletion syndrome"and"18q terminal deletion".This study was approved by Medical Ethics Committee of the Lianyungang Maternal and Child Health Care Hospital(Ethics No.LYG-MER2021017).ResultsThe child,a 4-year-and-6-month-old female,had manifested short stature,intellectual disability,distinctive facial features,aortic regurgitation,auditory canal atresia,and white matter lesions.She was found to have a karyotype of 46,XX,del(18)(q21),whilst the result of CMA was arr[GRCh37]18q21.33q23(60065821_77317445)×1.Both of her parents were found to have a normal karyotype.Literature review has retrieved 7 reports which involved 11 cases with a terminal 18q23 deletion.The phenotypes of cardiac abnormalities have been diverse,with pulmonary stenosis,atrial septal defect and ventricular septal defect being most common.ConclusionThe 18q terminal deletion probably underlay the multiple congenital anomalies and mental retardation in this child.

关 键 词：主动脉瓣关闭不全 18q末端缺失综合征 心脏发育异常 染色体G显带核型分析 染色体微阵列分析 

分 类 号：R725.9[医药卫生—儿科] R725.4[医药卫生—临床医学]