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Article

Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype.

American journal of diseases of children (1960) - 1 Nov 1993

McLean S D, Saal H M, Spinner N B, Emanuel B S, Driscoll D A

Abstract excerpt

We describe a mother and son with velo-cardio-facial syndrome (VCFS) in whom cytogenetic and DNA molecular studies demonstrate an interstitial deletion of the long arm of chromosome 22. Although these two individuals manifest the typical facial and cognitive features of VCFS, they are discordant for the cardiovascular and palatal anomalies, which are seminal manifestations of the disorder. Previously, this degree...

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Source

Identifiers

PMID: 8237917
DOI: 10.1001/archpedi.1993.02160350086013

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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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