P268: Obesity among patients with chromosome 22q11 duplication syndrome

Genetics in Medicine Open 2026 Open access

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Authors: Chaya Nautiyal Murali, Farah Ladha, Rachel Franciskovich, Haley E. Streff, Pilar L. Magoulas, Claudia Soler‐Alfonso, Lorraine Potocki, Stephanie R. Sisley
DOI: 10.1016/j.gimo.2026.103762
Cited by: 0

Abstract

Obesity is a known feature of chromosome 22q11 deletion syndrome, but there is scant literature about weight trends among patients with the reciprocal duplication. However, anecdotal evidence and rare reports suggest that obesity may also be associated with 22q11 duplication. We sought to describe pediatric patients followed at our institution who have 22q11 duplication syndrome and are overweight (body mass index [BMI] 85-95 centile) or obese (BMI ≥95 centile).

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Obesity Physical Activity Diet Genetic Syndromes and Imprinting

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103762–103762
Publication date
1 January 2026
Language
EN