Abstract
Collaborative multisite/multinational studies have now established the role of recurrent genetic perturbations including copy number variants (CNVs) in the pathogenesis of global developmental delay, intellectual developmental disorder, and ASD. Recent studies have also demonstrated the substantial heterogeneity in neuropsychiatric diagnoses that accompany these CNVs. Many of these recurrent CNVs now have specialized clinics devoted to the individuals. The current research on these common recurrent CNVs, their association with neuropsychiatric symptoms, as well as co-occurring medical conditions will be discussed as well as ongoing efforts to understand these CNVs in how they contribute to the development of the various disorders.
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