22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
22q11.2 deletion syndrome
clinical heterogeneity
genomic imprinting
parental origin
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
21 Apr 2024
21 Apr 2024
Historique:
received:
22
03
2024
revised:
18
04
2024
accepted:
18
04
2024
medline:
27
4
2024
pubmed:
27
4
2024
entrez:
27
4
2024
Statut:
epublish
Résumé
22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA microsatellite markers and single-nucleotide polymorphisms (SNPs). Among the 61 individuals, 29 (47.5%) had a maternal origin of the deletion, and 32 (52.5%) a paternal origin. Comparison of the frequency of the main clinical features between individuals with deletions of maternal or paternal origin showed no statistically significant difference. However,
Identifiants
pubmed: 38674452
pii: genes15040518
doi: 10.3390/genes15040518
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Fundação de Amparo à Pesquisa do Estado de São Paulo
ID : 2012/51799-6; 2018/08890-9
Organisme : National Council for Scientific and Technological Development
ID : 304684/2023-6
Organisme : Coordenação de Aperfeicoamento de Pessoal de Nível Superior
ID : 88887.615832/2021-00