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Article

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

Genes - 21 Apr 2024

de Wallau Melissa Bittencourt, Xavier Ana Carolina, Moreno Carolina Araújo, Kim Chong Ae, Mendes Elaine Lustosa, Ribeiro Erlane Marques, Oliveira Amanda, Félix Têmis Maria, Fett-Conte Agnes Cristina, Bonadia Luciana Cardoso, Correia-Costa Gabriela Roldão, Monlleó Isabella Lopes, Gil-da-Silva-Lopes Vera Lúcia, Vieira Társis Paiva

Abstract excerpt

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%)...

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Identifiers

PMID: 38674452
DOI: 10.3390/genes15040518
PMCID: PMC11050591

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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