Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia

Bassett, John and Chandler, Kate E. and Douzgou, Sofia (2016) Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia. European Journal of Medical Genetics, 59 (8). pp. 401-403. ISSN 1769-7212

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Chromosome 22q11.2 deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and thyroid hypoplasia, palatal abnormalities, cardiac malformations and psychiatric symptoms. Hyperphagia and childhood obesity is widely reported in Prader-Willi Syndrome (PWS) but there is only one previous report of this presentation in chromosome 22q11.2 deletion syndrome. We describe two further cases of chromosome 22q11.2 deletion syndrome in which hyperphagia and childhood obesity were the presenting features. This may be a manifestation of obsessive behaviour secondary to some of the psychiatric features commonly seen in chromosome 22q11.2 deletion syndrome. Serious complications may result from hyperphagia and childhood obesity therefore early recognition and intervention is crucial. Due to the similar clinical presentation of these two patients to patients with PWS, it is suggested that the hyperphagia seen here should be managed in a similar way to how it is managed in PWS.

Item Type:
Journal Article
Journal or Publication Title:
European Journal of Medical Genetics
Additional Information:
This is the author’s version of a work that was accepted for publication in European Journal of Medical Genetics. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in European Journal of Medical Genetics, 59, 8, 2016 DOI: 10.1016/j.ejmg.2016.05.008
Uncontrolled Keywords:
?? 22q11.2 deletionobesityhyperphagiaprader-willi syndromegeneticsgenetics(clinical) ??
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Deposited On:
17 May 2016 14:10
Last Modified:
13 Dec 2023 01:24