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Article

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

Clinical genetics - 1 Feb 2007

Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M

Abstract excerpt

The 22q11.2 microduplication syndrome is caused by non-allelic homologous recombination mediated by misalignments of low copy repeats located in the region deleted in the DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS). The variable phenotype of such condition, consisting in a combination of dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and...

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Source

Identifiers

PMID: 17250668
DOI: 10.1111/j.1399-0004.2007.00750.x

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

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