房间隔缺损合并肾积水的2q13微缺失1例并文献复习  

Atrial septal defect and hydronephrosis associated with 2q13 microdeletion:a case report and literature review

作　　者：于艳 杨彦[1] 李晓光[1] 陈琦[1] 陈云鹏[1] Yu Yan;Yang Yan;Li Xiaoguang;Chen Qi;Chen Yunpeng(Prenatal Diagnosis Center,the Fourth People's Hospital of Zhenjiang Affiliated to Jiangsu University,Zhenjiang 212000,China)

机构地区：[1]江苏大学附属镇江市第四人民医院产前诊断中心,镇江212000

出　　处：《中华围产医学杂志》2023年第12期997-1001,共5页Chinese Journal of Perinatal Medicine

摘　　要：目的探讨2q13微缺失的临床特征及遗传学特点。方法回顾性分析1例2021年10月在江苏大学附属镇江市第四人民医院产前诊断中心诊断为2q13微缺失患儿的产前诊断资料及出生后随访信息。在中国知网、万方数据库、中华医学期刊全文数据库、维普数据库,以“2q13微缺失”“2q13”为关键词;在PubMed、Embase和Cochrane Library数据库,以“2q13 microdeletion”和“2q13”为关键词,检索建库至2023年3月收录的2q13微缺失病例。分析这些病例的临床特征及遗传学特点。结果(1)本病例:该患儿在胎龄24周^(+2)经B超系统结构筛查发现主动脉弓轻度狭窄和左肾积水。胎龄27周+6羊膜腔穿刺检查胎儿染色体微阵列分析(chromosomal microarray analysis,CMA)结果提示其染色体2q13q14.1存在2.23 Mb的单拷贝缺失,拷贝数变异为可能致病性。胎龄38周+5经剖宫产出生,超声心动图提示房间隔缺损(继发孔型),B超提示左肾积水,新生儿其他检查未见异常。产后13个月电话随访,获悉生后检查提示房间隔缺损(继发孔型),左肾积水,儿科建议继续观察随访,未发现其他发育异常。(2)文献复习:共检索到相关文献32篇,合并本例共65例患者。2q13微缺失部分(15.6%,10/64)为新发,部分(35.9%,23/64)遗传自临床表型正常或异常的父母。2q13微缺失患者临床表现主要包括发育迟缓(53.3%,16/30)、颅面畸形(56.8%,21/37)和先天性心脏病(35.0%,14/40)等。部分病例随年龄增长出现精神神经症状,如注意缺陷多动障碍(48.0%,12/25)和孤独症谱系障碍(35.7%,10/28)等。结论2q13微缺失临床表型复杂且外显不全。如在产前胎儿或个体患者发现相关表型,建议行CMA进一步明确。部分2q13微缺失病例可能随着年龄增长会出现精神神经症状表现,故可能有必要长期随访。Objective To investigate the clinical and genetic features of 2q13 microdeletion.Methods This study retrospectively analyzed the clinical and genetic features and prognosis of an infant who was admitted to the Fourth People's Hospital of Zhenjiang Affiliated to Jiangsu University and diagnosed with 2q13 microdeletion in October 2021.A literature review on the clinical and genetic characteristics of 2q13 microdeletion was conducted by searching CNKI,Wanfang database,Yiigle,VIP database,PubMed,Embase,and Cochrane Library databases up to March 2023,with"2q13 microdeletion"and"2q13"(both in Chinese and English)as the keywords.Results(1)Case report:A fetus was found to have mild aortic arch stenosis and left hydronephrosis by prenatal ultrasound at 24^(+2) gestational weeks.Fetal chromosomal microarray analysis following amniocentesis at 27+6 weeks of gestation revealed a 2.23 Mb deletion at 2q13q14.1 chromosome,considered a possible pathogenic copy number variation.The newborn was delivered by cesarean section at 38+5 weeks of gestation.Echocardiography indicated ostium secundum atrial septal defect and ultrasound showed left hydronephrosis.Other examinations detected no abnormalities.Results of imaging reexamination showed no significant changes when followed up by telephone at 13 months after birth,and a continued follow-up was recommended by the pediatrician.No other developmental abnormalities were found.(2)Literature review:There were 64 patients in 32 retrieved literature,and the one case in this report results in 65 cases.The 2q13 microdeletions can be de novo(15.6%,10/64)or inherited from one of the parents with normal or abnormal phenotypes(35.9%,23/64).The clinical manifestations include developmental delay(53.3%,16/30),craniofacial abnormalities(56.8%,21/37),and congenital heart diseases(35.0%,14/40).In addition,some cases exhibited mental neurological symptoms with age,such as attention deficit hyperactivity disorder(48.0%,12/25),autism spectrum disorders(35.7%,10/28),etc.Conclusions The 2q13 microdeletio

关 键 词：房间隔缺损 肾盂积水 染色体缺失 染色体 人 2对 微阵列分析 DNA拷贝数变异 

分 类 号：R714.5[医药卫生—妇产科学]