Article
Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression.
Nature genetics - 1 Jul 1992
Wagstaff J, Knoll J H, Glatt K A, Shugart Y Y, Sommer A, Lalande M
Abstract excerpt
Angelman syndrome (AS) may result from either maternally inherited deletions of chromosome 15q11-13 or from paternal uniparental disomy for chromosome 15. This is in contrast to Prader-Willi syndrome (PWS), which is caused by either paternal deletion of this region or maternal disomy for chromoso...
Topics
- Angelman Syndrome
- Base Sequence
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- DNA
- Exons
- Female
- Genetic Linkage
- Humans
- Lymphocytes
- Macromolecular Substances
- Male
- Molecular Sequence Data
- Oligodeoxyribonucleotides
- Pedigree
- Phenotype
- Polymerase Chain Reaction