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Article

Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.

Genes - 22 Jul 2026

Bisba Maria, Louizou Eirini, Vittas Spiros

Abstract excerpt

BACKGROUND/OBJECTIVES: 22q11.2 microduplication syndrome is a rare genetic disorder characterized by the presence of one or two additional copies of a segment within the 22q11.2 region of chromosome 22. While much of the literature has focused on the deletion variant leading to DiGeorge syndrome, the duplication counterpart has gained increasing attention due to its clinical variability and under-recognition....

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Share to Abnormalities, Multiple
Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

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Identifiers

PMID: 42510884
DOI: 10.3390/genes17070844
PMCID: PMC13410031

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