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Article

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

American journal of medical genetics. Part A - 15 Nov 2006

Brunet Anna, Gabau Elisabeth, Perich Rosa Maria, Valdesoiro Laura, Brun Carme, Caballín Maria Rosa, Guitart Miriam

Abstract excerpt

The 22q11.2 region is susceptible to chromosomal rearrangements, leading to various types of congenital malformation and mental retardation. The most common anomaly is 22q11.2 microdeletion, associated with DiGeorge/Velocardiofacial syndrome (DG/VCFS). Recently the microduplication 22q11.2 syndrome has been identified. Some clinical features in patients with this new chromosomal disorder present a substantial...

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PMID: 17041934
DOI: 10.1002/ajmg.a.31499

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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