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

doi:10.1001/archpedi.1993.02160350086013

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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...

Topics

Abnormalities, Multiple
Adult
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 22
DNA
Face
Female
Fingers
Heart Defects, Congenital
Humans
Intellectual Disability
Male
Palate
Phenotype
Syndrome

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