Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Since we had excluded from the study ASD patients with non-idiopathic ASD after previous extensive clinical and laboratory screening with targeted MLPA analyses for subtelomeric and known rearrangements, the yield of the aCGH in detecting novel CNVs potentially related with the ASD phenotype is quite significant—12.5%.

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