title: Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia.
abstract: 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.
authors.affiliation: Faculty of Health and Medicine, Lancaster University, Lancaster LA1 4YG, UK.
authors.forename: J K
authors.initials: JK
authors.lastname: Bassett
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester M13 9WL, UK; Institute of Human Development, University of Manchester, Oxford Road, Manchester, M13 9WL, UK.
authors.forename: K E
authors.initials: KE
authors.lastname: Chandler
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester M13 9WL, UK; Institute of Human Development, University of Manchester, Oxford Road, Manchester, M13 9WL, UK. Electronic address: sofia.douzgou@cmft.nhs.uk.
authors.forename: S
authors.initials: S
authors.lastname: Douzgou
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D006963:Hyperphagia / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D063766:Pediatric Obesity / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis
keywords: 22q11.2 deletion; Hyperphagia; Obesity; Prader-Willi Syndrome