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.
作者
季星
JI Xing(Department of Developmental Behavior Pediatrics and Children Healthcare,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)
出处
《教育生物学杂志》
2020年第1期6-11,共6页
Journal of Bio-education
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
mental retardation
developmental delay
genetic test
copy number variation
exome sequencing
