Genetic Approach to Diagnosis of Intellectual Disability

Puri Ratna Dua; Tuteja Moni; Verma I. C.

首页> 外文期刊>Indian journal of pediatrics >Genetic Approach to Diagnosis of Intellectual Disability

【24h】

Genetic Approach to Diagnosis of Intellectual Disability

机译：Genetic Approach to Diagnosis of Intellectual Disability

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相关主题

摘要

Intellectual disability is a non-specific phenotype present in a genetically heterogeneous group of disorders. It is characterized by deficits in intellectual and adaptive functioning, presenting before 18 y of age. Identifying the cause of ID is important to provide treatment where available, genetic counseling, recurrence risks and reproductive options for subsequent pregnancies. Advances in technology, especially next generation sequencing and microarrays, have greatly increased the diagnostic yield of evaluation in cases of ID. This paper describes the points in history taking and examination in the evaluation of a proband, and discusses the proper use of newer diagnostic technologies.

著录项

来源
《Indian journal of pediatrics》 |2016年第10期|1141-1149|共9页
作者
Puri Ratna Dua; Tuteja Moni; Verma I. C.;
展开▼
作者单位

Ganga Ram Inst Postgrad Med Res & Educ, Inst Med Genet & Genom, Sir Ganga Ram Hosp, New Delhi;

展开▼
收录信息
原文格式 PDF
正文语种英语
中图分类儿科学;
关键词
Intellectual disability; Etiology; Microarray; Metabolic; Single gene disorders; Next generation sequencing;

Genetic Approach to Diagnosis of Intellectual Disability

摘要

著录项

相关主题

期刊订阅