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An estimated 2\u20135% of patients have \u201catypical\u201d deletions, which extend in the centromeric and\/or telomeric direction from the WBS critical region. To elucidate clinical differentiators among these deletion types, we evaluated 10 individuals with atypical deletions in our cohort and 17 individuals with similarly classified deletions previously described in the literature. Larger deletions in either direction often led to more severe developmental delays, while deletions containing <jats:italic>MAGI2<\/jats:italic> were associated with infantile spasms and seizures in patients. In addition, head size was notably smaller in those with centromeric deletions including <jats:italic>AUTS2<\/jats:italic>. Because children with atypical deletions were noted to be less socially engaged, we additionally sought to determine how atypical deletions relate to social phenotypes. Using the Social Responsiveness Scale\u20102, raters scored individuals with atypical deletions as having different social characteristics to those with typical WBS deletions (<jats:italic>p<\/jats:italic> = .001), with higher (more impaired) scores for social motivation (<jats:italic>p<\/jats:italic> = .005) in the atypical deletion group. In recognizing these distinctions, physicians can better identify patients, including those who may already carry a clinical or FISH WBS diagnosis, who may benefit from additional molecular evaluation, screening, and therapy. In addition to the clinical findings, we note mild endocrine findings distinct from those typically seen in WBS in several patients with telomeric deletions that included <jats:italic>POR<\/jats:italic>. Further study in additional telomeric deletion cases will be needed to confirm this observation.<\/jats:p>","DOI":"10.1002\/ajmg.a.61522","type":"journal-article","created":{"date-parts":[[2020,2,20]],"date-time":"2020-02-20T12:28:25Z","timestamp":1582201705000},"page":"1008-1020","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams\u2013Beuren syndrome"],"prefix":"10.1002","volume":"182","author":[{"given":"Michael","family":"Lugo","sequence":"first","affiliation":[{"name":"Department of Pediatrics Medical University of South Carolina  Charleston South Carolina"},{"name":"Translational Vascular Medicine Branch National Heart, Lung, and Blood Institute, National Institutes of Health  Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zo\u00eb C.","family":"Wong","sequence":"additional","affiliation":[{"name":"Translational Vascular Medicine Branch National Heart, Lung, and Blood Institute, National Institutes of Health  Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"Charles J.","family":"Billington","sequence":"additional","affiliation":[{"name":"Medical Genetics and Genomic Medicine Training Program National Human Genetics Research Institute, National Institutes of Health  Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phoebe C. 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