en
Scientific article
Open access
French

[Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome]

Published inL'Encéphale, vol. 41, no. 3, p. 266-273
Publication date2015
Abstract

The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22. 22q11.2DS has several presentations including Di George's syndrome, velo-cardio-facial syndrome or Shprintzen's syndrome and it is the most frequent microdeletion syndrome in the general population (prevalence estimated at 1/4000 births, de novo: 90%). The inheritance of the syndrome (10%) is autosomal dominant. Most people with 22q11.2DS are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. A small percentage of affected individuals have shorter deletions in the same region (contiguous gene deletion syndrome). The general features of 22q11.2DS vary widely (more than 180 phenotypic presentations) and the syndrome is under diagnosed. Characteristic symptoms may include congenital heart disease, defects in the palate, neuromuscular problems, velo-pharyngeal insufficiency, hypoparathyroidism, craniofacial features and problems with the immune system T-cell mediated response (caused by hypoplasia of the thymus).

Citation (ISO format)
DEMILY, Caroline et al. [Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome]. In: L’Encéphale, 2015, vol. 41, n° 3, p. 266–273. doi: 10.1016/j.encep.2014.10.005
Main files (1)
Article (Accepted version)
accessLevelPublic
Identifiers
ISSN of the journal0013-7006
746views
715downloads

Technical informations

Creation11/06/2015 2:10:00 PM
First validation11/06/2015 2:10:00 PM
Update time03/15/2023 12:04:06 AM
Status update03/15/2023 12:04:05 AM
Last indexation01/16/2024 8:02:23 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack