摘要
智力障碍/全面发育迟缓是儿童常见的神经发育障碍性疾病,病因复杂,其中大约一半的病因为遗传因素,遗传学病因包括染色体核型异常、拷贝数变异(NV)或基因突变等。对于检测此类疾病常用的检测方法有染色体核型分析、染色体微阵列分析(CMA)、下一代测序技术(NGS)等,每种基因检测各有优缺点。因此,根据患儿的临床表型,选择合适的基因检测方法对于诊断此类疾病尤为重要。
As a common developmental disorder,intellectual disability/global developmental(ID/GDD)has complex etiologies in chirden.About half of the causes are genetic,including chromosome karyotype abnormality,copy number variation(NV),gene mutation and so on.Common gene detection methods for diagnosis include chromosome karyotype analysis,chromosomal mlcroarry analysis(CMA),next-generation sequencing(NGS),which have advantages and disadvantages.Therefore,it is important to select appropriate gene detection methods according to the clinical phenotype of children with such diseases.
作者
王雨
刘丽
马小萍
李洋洋
杜田菊
WANG Yu;LIU Li;MA Xiaoping;LI Yangyang;DU Tianju(Ningxia Medical University,Yinchuan 750004,China;The First People’Hospital of Yinchuan,Second Clinical Medical College of Ningxia Medical University,Yinchuan 750001,China)
出处
《宁夏医科大学学报》
2023年第9期959-963,共5页
Journal of Ningxia Medical University
基金
银川市科技创新重大重点专项项目(2021-SF-006)。
关键词
智力障碍
全面发育迟缓
病因
基因检测
intellectual disability
global developmental delay
etiology
gene testing
