Article
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
American journal of human genetics - 1 Oct 1996
Pérez Jurado L A, Peoples R, Kaplan P, Hamel B C, Francke U
Abstract excerpt
Williams syndrome (WS) is a developmental disorder with variable phenotypic expression associated, in most cases, with a hemizygous deletion of part of chromosomal band 7q11.23 that includes the elastin gene (ELN). We have investigated the frequency and size of the deletions, determined the parental origin, and correlated the molecular results with the clinical findings in 65 WS patients. Hemizygosity at the ELN...
Topics
- Adult
- Blotting, Southern
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 7
- Elastin
- Gene Deletion
- Gene Dosage
- Genomic Imprinting
- Genotype
- Humans
- In Situ Hybridization, Fluorescence
- Pedigree
- Phenotype
- Polymerase Chain Reaction