A Larger Deletion of the Williams Beuren Syndrome Region Encompassing Genes Implicated in Autism Spectrum Disorder: Case Report

Abstract

Williams Beuren Syndrome (WBS): Well-studied multisystemic disorder caused by a 1.5Mb hemizygous deletion of about 28 genes on 7q11.23. Characteristic pattern of symptoms: typical facial dysmorphisms, congenital cardiopathy, weakness of connective tissue, intellectual disability and a characteristic cognitive profile that includes relative strengths in verbal term memory and lexical comprehension.