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Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist Lintas C; Persico AMJ Med Genet 2009[Jan]; 46 (1): 1-8Autism 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.|*Genetic Testing[MESH]|Autistic Disorder/*genetics/metabolism[MESH]|Carrier Proteins[MESH]|Cell Adhesion Molecules, Neuronal[MESH]|Genetic Counseling[MESH]|Genetics, Medical[MESH]|Humans[MESH]|MSX1 Transcription Factor/genetics/metabolism[MESH]|Membrane Proteins/genetics/metabolism[MESH]|Methyl-CpG-Binding Protein 2/genetics/metabolism[MESH]|Microfilament Proteins/genetics/metabolism[MESH]|Nerve Tissue Proteins/genetics/metabolism[MESH]|PTEN Phosphohydrolase/genetics/metabolism[MESH]|Phenotype[MESH]|Tensins[MESH] |
