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J Med Genet. 2009 Jan;46(1):1-8. doi: 10.1136/jmg.2008.060871. Epub 2008 Aug 26.

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

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  • 1Laboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio-Medico, Via Alvaro del Portillo 21, I-00128 Rome, Italy.


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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