Article
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
American journal of medical genetics - 15 Sept 1992
Driscoll D A, Spinner N B, Budarf M L, McDonald-McGinn D M, Zackai E H, Goldberg R B, Shprintzen R J, Saal H M, Zonana J, Jones M C
Abstract excerpt
Velo-cardio-facial syndrome (VCFS), an autosomal dominant disorder, is characterized by cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less frequently, VCFS patients have manifestations of the DiGeorge complex (DGC) including hypocalcemia, hypoplastic or abs...
Topics
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Cleft Palate
- DNA
- DNA Probes
- DiGeorge Syndrome
- Face
- Female
- Heart Defects, Congenital
- Humans
- Learning Disabilities
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
- Syndrome