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Article

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

American journal of medical genetics - 1 Feb 1993

Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen R J, Scambler P J

Abstract excerpt

The velo-cardio-facial syndrome (VCFS) and DiGeorge sequence (DGS) have many similar phenotypic characteristics, suggesting that in some cases they share a common cause. DGS is known to be associated with monosomy for a region of chromosome 22q11, and DNA probes have been shown to detect these deletions even in patients with apparently normal chromosomes. Twelve patients with VCFS were examined and monosomy for a...

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Identifiers

PMID: 8434616
DOI: 10.1002/ajmg.1320450306

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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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Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.PMID 8434616Read ↗

Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.Semantic proximity Read ↗

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

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

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

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

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

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

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

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.Semantic proximity Read ↗

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.Semantic proximity Read ↗

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.Semantic proximity Read ↗

Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.Semantic proximity Read ↗

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