Structural Genome Variations Associated with Autism Spectrum Disorders (ASD), A Case Report

Karen Tous-Barrios, Jesly Doria-Atencia, Roberto Garcia-Bermejo, Mauricio Guerrero-Roman

Abstract: The advent of methodologies and technologies to scan the human genome will bring new strategies for the identification of risk mutations, with the aim of providing genetic/familial counseling, timely diagnosis, prognosis, appropriate clinical approach and targeted treatment in different pathologies and mainly neurodevelopmental pathologies, such as Autism Spectrum Disorder (ASD). We present the case of a patient with double structural alteration of the genome related to ASD, with the aim of highlighting the importance of genetic/molecular study to facilitate cataloging, characterization, and clinical interpretation, as well as genetic counseling. Describe ASD in terms of the underlying structural features of each patient's genome.

Keywords: Autism Spectrum Disorder, ASD, X-linked, Genes, Genome, Intellectual Disability