Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.

doi:10.1136/jmg.30.10.825

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Article

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.

Journal of medical genetics - 1 Oct 1993

Holder S E, Winter R M, Kamath S, Scambler P J

Abstract excerpt

We report a mother and daughter with features of the velocardiofacial (VCF) syndrome and monosomy for 22q11 identified using molecular techniques. The mother had surgery as a child for a cleft palate and a congenital heart defect, and her facial features were consistent with the diagnosis. The da...

Topics

Abnormalities, Multiple
Child
Chromosome Deletion
Cleft Palate
Face
Female
Gene Deletion
Genetic Variation
Heart Defects, Congenital
Humans
Monosomy
Neurocognitive Disorders
Phenotype
Syndrome
Velopharyngeal Insufficiency

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