Article
Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
Journal of medical genetics - 1 Dec 1996
Joyce C A, Zorich B, Pike S J, Barber J C, Dennis N R
Abstract excerpt
Fluorescence in situ hybridisation (FISH) and conventional chromosome analysis were performed on a series of 52 patients with classical Williams-Beuren syndrome (WBS), suspected WBS, or supravalvular aortic stenosis (SVAS). In the classical WBS group, 22/23 (96%) had a submicroscopic deletion of...
Topics
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 22
- Chromosomes, Human, Pair 7
- Elastin
- Female
- Gene Deletion
- Genetic Variation
- Genotype
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Male
- Phenotype
- Pulmonary Valve Stenosis
- Ring Chromosomes