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Article

Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

Genes - 16 Dec 2023

Ferrario Alessandra, Aliu Nijas, Rieubland Claudine, Vuilleumier Sébastian, Grabe Hilary M, Escher Pascal

Abstract excerpt

Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.2-p12. He presents with facial dysmorphism characterized by a...

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Identifiers

PMID: 38137045
DOI: 10.3390/genes14122222
PMCID: PMC10742694

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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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