Abstract:Pleiotropy and variable expressivity have been cited to explain the seemingly distinct neurodevelopmental disorders due to a common genetic etiology within the same family. Here we present a family with a de novo 1 Mb duplication involving 18 genes on chromosome 19. Within the family there are multiple cases of neurodevelopmental disorders including: Autism Spectrum Disorder, Attention Deficit/Hyperactivity Disorder, Intellectual Disability, and psychiatric disease in individuals carrying this Copy Number Vari… Show more
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