Autistic Phenotypes and Genetic Testing: State-of-the-art for the Clinical Geneticist

Overview

Journal J Med Genet

Specialty Genetics

Date 2008 Aug 30

PMID 18728070

Citations 58

Authors

C Lintas

A M Persico

Affiliations

Soon will be listed here.

Abstract

Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.

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