遗传学检测广泛应用于精神发育迟缓和发育延迟患者临床诊断的思考  

Opinion for extensive usage of genetic tests in individuals with mental retardation and developmental delay

作　　者：季星[1] JI Xing(Department of Developmental Behavior Pediatrics and Children Healthcare,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院儿童保健与发育行为儿科,中国上海200092

出　　处：《教育生物学杂志》2020年第1期6-11,共6页Journal of Bio-education

摘　　要：精神发育迟缓(mental retardation,MR)和发育落后(developmental delay,DD)是发育与行为儿科诊疗中的常见疾病。染色体异常、拷贝数变异、基因变异等遗传物质缺陷是导致MR/DD发生的重要原因。随着染色体基因组芯片和外显组测序等新技术的应用,遗传学检测已经成为MR/DD患者的一线诊断方案。对MR/DD患者临床遗传诊疗技术作一简单介绍,同时就MR/DD患者临床遗传诊断中的潜在风险进行分析,并提出临床应用遗传检测所应注意的问题。Mental retardation( MR) and developmental delay( DD) are common disorders of departments of developmental and behavioral pediatrics. Chromosomal abnormalities,copy number variations,and gene variants are known causes of MR/DD. Genetic test has become the first-tier diagnostic method for MR/DD,with the widely used chromosome micro-array analysis and exome sequencing. Here we give a brief introduction of clinical approach to MR/DD patients,discuss some potential risks of genetic tests and propose some recommendations.

关 键 词：精神发育迟缓 发育落后 遗传检测 拷贝数变异 外显组测序 

分 类 号：R749.94[医药卫生—神经病学与精神病学]