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pubmed-article:20808231pubmed:abstractTextThe short arm of chromosome 16 is rich in segmental duplications, predisposing this region of the genome to a number of recurrent rearrangements. Genomic imbalances of an approximately 600-kb region in 16p11.2 (29.5-30.1 Mb) have been associated with autism, intellectual disability, congenital anomalies, and schizophrenia. However, a separate, distal 200-kb region in 16p11.2 (28.7-28.9 Mb) that includes the SH2B1 gene has been recently associated with isolated obesity. The purpose of this study was to better define the phenotype of this recurrent SH2B1-containing microdeletion in a cohort of phenotypically abnormal patients not selected for obesity.lld:pubmed
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pubmed-article:20808231pubmed:articleTitleRecurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.lld:pubmed
pubmed-article:20808231pubmed:affiliationDivision of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.lld:pubmed
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