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

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This study shows that a specific small (200‑kb) distal 16p11.2 deletion involving the SH2B1 gene is linked to both developmental delays and a high risk of obesity, helping families and clinicians understand why weight gain may occur early and supporting the use of early monitoring, tailored nutrition, and proactive medical care rather than assuming overeating alone is the cause.