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Case Studies | Pediatric Specialty | Volume 11 Issue 2, February 2022 | Pages: 483 - 485 | Colombia
Structural Genome Variations Associated with Autism Spectrum Disorders (ASD), A Case Report
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
How to Cite?: Karen Tous-Barrios, Jesly Doria-Atencia, Roberto Garcia-Bermejo, Mauricio Guerrero-Roman, "Structural Genome Variations Associated with Autism Spectrum Disorders (ASD), A Case Report", Volume 11 Issue 2, February 2022, International Journal of Science and Research (IJSR), Pages: 483-485, https://www.ijsr.net/getabstract.php?paperid=SR22204100444, DOI: https://dx.doi.org/10.21275/SR22204100444