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Article

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

European journal of medical genetics - 1 Aug 2016

Bassett J K, Chandler K E, Douzgou S

Abstract excerpt

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...

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Source

Identifiers

PMID: 27184501
DOI: 10.1016/j.ejmg.2016.05.008

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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