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Article

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

American journal of medical genetics - 15 Sept 1992

Driscoll D A, Spinner N B, Budarf M L, McDonald-McGinn D M, Zackai E H, Goldberg R B, Shprintzen R J, Saal H M, Zonana J, Jones M C

Abstract excerpt

Velo-cardio-facial syndrome (VCFS), an autosomal dominant disorder, is characterized by cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less frequently, VCFS patients have manifestations of the DiGeorge complex (DGC) including hypocalcemia, hypoplastic or absent lymphoid tissue and T-cell deficiency suggesting that these 2 conditions share a common pathogenesis. Here, we...

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Identifiers

PMID: 1360769
DOI: 10.1002/ajmg.1320440237

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

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Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.PMID 1360769Read ↗

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literatureSemantic proximity Read ↗

Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.Semantic proximity Read ↗

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.Semantic proximity Read ↗

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

[Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].Semantic proximity Read ↗

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.Semantic proximity Read ↗

22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromesSemantic proximity Read ↗

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locusSemantic proximity Read ↗

The 22q11.2 deletion syndrome.Semantic proximity Read ↗

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.Semantic proximity Read ↗

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.Semantic proximity Read ↗

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.Semantic proximity Read ↗

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