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

Demily, Caroline; Rossi, M; Schneider, Maude; Edery, P; Leleu, A; d'Amato, T; Franck, N; Eliez, Stéphan

doi:10.1016/j.encep.2014.10.005

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Title		[Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome]
Authors		Demily, Caroline Rossi, M Schneider, Maude Edery, P Leleu, A d'Amato, T Franck, N Eliez, Stéphan
Published in		L'Encéphale. 2015, vol. 41, no. 3, p. 266-273
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).
Identifiers		DOI: 10.1016/j.encep.2014.10.005 PMID: 25523123
Full text		Article (Accepted version) (269 Kb) - Free access
Structures		Faculté de médecine / Section de médecine clinique / Département de psychiatrie
Research group		Laboratoire d'imagerie et de psychopathologie développementale (693)
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 https://archive-ouverte.unige.ch/unige:79594