Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist

C. Lintas; A. M. Persico

doi:10.1136/jmg.2008.060871

Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist

C. Lintas, A. M. Persico

Fondazione Santa Lucia

Research output: Contribution to journal › Article

104 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1-8
Number of pages	8
Journal	Journal of Medical Genetics
Volume	46
Issue number	1
DOIs	https://doi.org/10.1136/jmg.2008.060871
Publication status	Published - Jan 2009

Fingerprint

Genetic Testing

Autistic Disorder

Chromosome Aberrations

Phenotype

Mutation

Genetic Association Studies

Guidelines

Genes

Autism Spectrum Disorder

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

Lintas, C., & Persico, A. M. (2009). Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist. Journal of Medical Genetics, 46(1), 1-8. https://doi.org/10.1136/jmg.2008.060871

Autistic phenotypes and genetic testing : State-of-the-art for the clinical geneticist. / Lintas, C.; Persico, A. M.

In: Journal of Medical Genetics, Vol. 46, No. 1, 01.2009, p. 1-8.

Research output: Contribution to journal › Article

Lintas, C & Persico, AM 2009, 'Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist', Journal of Medical Genetics, vol. 46, no. 1, pp. 1-8. https://doi.org/10.1136/jmg.2008.060871

Lintas C, Persico AM. Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist. Journal of Medical Genetics. 2009 Jan;46(1):1-8. https://doi.org/10.1136/jmg.2008.060871

Lintas, C. ; Persico, A. M. / Autistic phenotypes and genetic testing : State-of-the-art for the clinical geneticist. In: Journal of Medical Genetics. 2009 ; Vol. 46, No. 1. pp. 1-8.

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10.1136/jmg.2008.060871