宁夏地区新生儿22q11.2微缺失综合征临床特征分析  

Study on the clinical characteristics of 22q11.2 microdeletion syndrome in the newborn in Ningxia

作　　者：于辛酉 闫亚萍 谢峰[2] 郑丹丹[2] 闫宝兰[2] YU Xinyou;YAN Yaping;XIE Feng;ZHENG Dandan;YAN Baolan(Department of Pediatrics,the General Hospital of Ningxia Medical University,Yinchuan 750004,China;Department of Medical Experimental Center,the General Hospital of Ningxia Medical University,Yinchuan 750004,China)

机构地区：[1]宁夏医科大学总医院医学实验中心,宁夏银川750004 [2]宁夏医科大学总医院儿科,宁夏银川750004

出　　处：《宁夏医学杂志》2020年第6期488-490,共3页Ningxia Medical Journal

基　　金：宁夏回族自治区卫生计生委重点研究项目(2016-NW-011)。

摘　　要：目的分析22q11.2微缺失综合征(22q11.2 deletion syndrome;22q11.2 DS)患儿临床特征及其临床意义。方法将77例22q11.2 DS疑似患儿纳入研究,收集整理患儿心脏、免疫、内分泌、生长发育、认知、异常面容、精神等方面的临床资料,结合染色体芯片及多重连接探针扩增技术确诊结果,探讨22q11.2 DS的临床诊断意义。结果在77例22q11.2 DS疑似患儿中,检测阳性率为14.3%(11例),阳性病例中的72.7%具有先天性心脏畸形。结论临床表现为先天性心脏畸形和免疫缺陷的患儿应首先进行22q11.2 DS的遗传学诊断。Objective To analyze the clinical characteristics of 22q11.2 microdeletion syndrome(22q11.2 DS)and to explore the clinical significance in early diagnosis.Methods A total of 77 children with suspected 22q11.2 DS from our hospital from April 2014 to April 2019 were collected.The clinical data of heart,immunity,endocrine,growth and development,cognition,abnormal face and spirit of the suspected children were collected and sorted out.The clinical diagnosis significance of 22q11.2 microdeletion syndrome was discussed based on the results of chromosome chip(CMA)and multiple connection probe amplification(MLPA)technology.Results In those cases,11 cases were confrmed 22q11.2 DS through the CMA/MLPA detection,and the positive rate was 14.3%.and 72.7%of them had congenital heart malformation.Conclusion The genetic diagnosis of 22q11.2 microdeletion syndrome should be carried out in children with congenital heart malformation and immune deficiency.

关 键 词：22q11.2微缺失综合征 染色体芯片 多重连接探针扩增技术 临床特征 

分 类 号：R725.7[医药卫生—儿科]