Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills.
Journal
Psychiatric genetics
ISSN: 1473-5873
Titre abrégé: Psychiatr Genet
Pays: England
ID NLM: 9106748
Informations de publication
Date de publication:
01 10 2023
01 10 2023
Historique:
medline:
15
9
2023
pubmed:
14
9
2023
entrez:
14
9
2023
Statut:
ppublish
Résumé
Rearrangements of 22q11.2 region, most often deletions and duplications, are responsible for multiple congenital disorders. These rearrangements are involved in syndromes that share some phenotypic similarities. To date, 22q11.2 triplication remains very rare, with few cases described in the literature. Here, we report for the first time the clinical, neurocognitive, social cognition and psychiatric properties of a 6-year-old child with 22q11.2 triplication, in comparison with a patient with 22q11.2 duplication and 16 cases of patients with 22q11.2 deletion. Chromosomal region 22q11.2 seems to be a critical locus for sociability and attentional skills and rearrangements could be interpreted as a predisposing factor for the development of psychotic symptoms (22q11.2 deletion), a protective factor (22q11.2 duplication) or a tendency factor for hypersociability (22q11.2 triplication).
Identifiants
pubmed: 37706496
doi: 10.1097/YPG.0000000000000351
pii: 00041444-202310000-00004
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
202-205Informations de copyright
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
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