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. 2016 Oct;83(10):1141-9.
doi: 10.1007/s12098-016-2205-0. Epub 2016 Sep 13.

Genetic Approach to Diagnosis of Intellectual Disability

Ratna Dua Puri  1 , Moni Tuteja  2 , I C Verma  2
Affiliations

Genetic Approach to Diagnosis of Intellectual Disability

Ratna Dua Puri et al. Indian J Pediatr. 2016 Oct.

Erratum in

Abstract

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.

Keywords: Etiology; Intellectual disability; Metabolic; Microarray; Next generation sequencing; Single gene disorders.

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References

    1. Genet Med. 2007 Sep;9(9):560-5 - PubMed
    1. Intellect Dev Disabil. 2007 Apr;45(2):116-24 - PubMed
    1. Nature. 2014 Jul 17;511(7509):344-7 - PubMed
    1. Eur J Hum Genet. 2004 Jan;12(1):24-8 - PubMed
    1. Am J Hum Genet. 2010 May 14;86(5):749-64 - PubMed

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