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The majority of individuals with CHARGE have pathogenic variants in the gene encoding CHD7, a chromatin remodeling protein. Here, we present a 15\u2010year\u2010old girl with clinical features of CHARGE syndrome and a de novo 6.5\u2009Mb gain of genomic material at 2p25.3\u2013p25.2. The duplicated region contained 24 genes, including the early and broadly expressed transcription factor gene <jats:italic>SOX11<\/jats:italic>. Analysis of 28 other patients with CHARGE showed no <jats:italic>SOX11<\/jats:italic> copy number changes or pathogenic sequence variants. To our knowledge, this child's chromosomal abnormality is unique and represents the first co\u2010occurrence of duplication 2p25 and clinical features of CHARGE syndrome. We compare our patient's phenotype to ten previously published patients with isolated terminal duplication 2p, and elaborate on the clinical diagnosis of CHARGE in the context of atypical genetic findings. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37592","type":"journal-article","created":{"date-parts":[[2016,2,6]],"date-time":"2016-02-06T11:46:16Z","timestamp":1454759176000},"page":"1148-1154","source":"Crossref","is-referenced-by-count":9,"title":["Duplication 2p25 in a child with clinical features of CHARGE syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Ethan D.","family":"Sperry","sequence":"first","affiliation":[{"name":"Department of Human Genetics The University of Michigan Ann Arbor Michigan"},{"name":"Department of the Medical Scientist Training Program The University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane L.","family":"Schuette","sequence":"additional","affiliation":[{"name":"Department of Human Genetics The University of Michigan Ann Arbor Michigan"},{"name":"Department of Pediatrics and Communicable Diseases The University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conny M. 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