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Article

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

The Journal of pediatrics - 1 Sept 1993

Motzkin B, Marion R, Goldberg R, Shprintzen R, Saenger P

Abstract excerpt

Velocardiofacial syndrome (VCF) has overlapping features with DiGeorge sequence; both result from a developmental field defect and probably represent contiguous gene deletion syndromes. The association of chromosome 22q11 deletion with DiGeorge sequence led us to do molecular analysis of chromosome 22 in 18 patients with VCF, who ranged in age from 6 to 42 years. All 18 patients had monosomy for the chromosome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8355116
DOI: 10.1016/s0022-3476(05)81740-8

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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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Variable clinical phenotypes of velocardiofacial syndrome in a pair of brothers.Semantic proximity Read ↗

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