Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

doi:10.1097/GIM.0b013e3181ef4286

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Article

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2010

Bachmann-Gagescu Ruxandra, Mefford Heather C, Cowan Charles, Glew Gwen M, Hing Anne V, Wallace Stephanie, Bader Patricia I, Hamati Aline, Reitnauer Pamela J, Smith Rosemarie, Stockton David W, Muhle Hiltrud, Helbig Ingo, Eichler Evan E, Ballif Blake C, Rosenfeld Jill, Tsuchiya Karen D

Abstract excerpt

PURPOSE: The 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 20808231
DOI: 10.1097/GIM.0b013e3181ef4286

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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