Article
Genetic abnormalities in Prader-Willi syndrome and lessons from mouse models.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1999
Nicholls R D, Ohta T, Gray T A
Abstract excerpt
Prader-Willi syndrome is a multigenic disorder with developmental and neurobehavioural abnormalities. There are multiple genetic causes, although all ultimately involve the loss of paternally derived gene expression of chromosome region 15q11-q13. Multiple imprinted genes expressed only from the paternal allele have been identified in the specific region of human chromosome 15q associated with Prader-Willi...
Topics
- Angelman Syndrome
- Animals
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- Disease Models, Animal
- Genomic Imprinting
- Humans
- Mice
- Phenotype
- Prader-Willi Syndrome
- Translocation, Genetic