Obesity and Underweight Related to Deletions and Duplications of Same Genetic Region

Patients with intractable hyperphagia or hypophagia are uncommon but challenging for the clinician. These investigators previously demonstrated that a hemizygotic deletion on chromosome 16 (16p11.2) was associated with increased risk for hyperphagia, obesity, macrocephaly, and intellectual disability. To examine whether the opposite situation, duplication of 16p11.2, would be associated with eating or developmental impairments, the researchers conducted an international, multicenter study examining eating behaviors, weight, head circumference, and genotyping results in this genetic region and some distal genomic areas. Participants were recruited from clinics serving patients with developmental delay, intellectual impairment, or psychiatric…