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. We have reviewed the Literature to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioral or morphological phenotypes. Based on this information, we propose a set of practical guidelines to help clinical geneticists pursue targeted genetic testing for autistic patients whose clinical phenotype is suggestive of a specific genetic or genomic etiology.
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