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A causal relationship has been recognized in both monogenic (e.g., <jats:italic>BDNF<\/jats:italic>, <jats:italic>TRKB<\/jats:italic>, and <jats:italic>SIM1<\/jats:italic> deficiencies) and syndromic forms of obesity [e.g., Prader\u2013Willi syndrome (PWS)]. Syndromic obesity arising from chromosomal abnormalities, that typically also affect learning and development, are often associated with congenital malformations and behavioral characteristics. We report on nine unrelated patients with a diagnosis of learning disability and\/or developmental delay (DD) in addition to obesity that were found to have copy number variants (CNVs) by single nucleotide polymorphism array\u2010based analysis. Each patient also had a distinct and complex phenotype, and most had hypotonia and other neuroendocrine issues, such as hyperphagia and hypogonadism. Molecular and clinical characterization of these patients enabled us to determine with confidence that the CNVs we observed were pathogenic or likely to be pathogenic. Overall, the CNVs reported here encompassed a candidate gene or region (e.g., <jats:italic>SIM1<\/jats:italic>) that has been reported in patients associating obesity and DD and\/or intellectual disability (ID) and novel candidate genes and regions. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35761","type":"journal-article","created":{"date-parts":[[2013,2,8]],"date-time":"2013-02-08T02:26:49Z","timestamp":1360290409000},"page":"479-486","source":"Crossref","is-referenced-by-count":23,"title":["Obesity with associated developmental delay and\/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants"],"prefix":"10.1002","volume":"161","author":[{"given":"Carla 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