Article
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
Molecular human reproduction - 1 Apr 1997
Glenn C C, Driscoll D J, Yang T P, Nicholls R D
Abstract excerpt
The Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct syndromes which result from lack of expression of imprinted genes within chromosome 15q11-q13. These two syndromes result from 15q11-q13 deletions, chromosome 15 uniparental disomy (UPD), imprinting centre mutations an...
Topics
- Angelman Syndrome
- Animals
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- DNA Methylation
- Female
- Gene Expression
- Genomic Imprinting
- Humans
- Male
- Mice
- Mutation
- Paternity
- Phenotype
- Prader-Willi Syndrome
