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Indian Journal of Pediatrics
Erschienen in: Indian Journal of Pediatrics 10/2016

13.09.2016 | Review Article

Genetic Approach to Diagnosis of Intellectual Disability

verfasst von: Ratna Dua Puri, Moni Tuteja, I. C. Verma

Erschienen in: Indian Journal of Pediatrics | Ausgabe 10/2016

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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.
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Metadaten
Titel
Genetic Approach to Diagnosis of Intellectual Disability
verfasst von
Ratna Dua Puri
Moni Tuteja
I. C. Verma
Publikationsdatum
13.09.2016
Verlag
Springer India
Erschienen in
Indian Journal of Pediatrics / Ausgabe 10/2016
Print ISSN: 0019-5456
Elektronische ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-016-2205-0

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