Article
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
American journal of medical genetics. Part A - 1 Mar 2017
Le Fevre Anna, Beygo Jasmin, Silveira Cheryl, Kamien Benjamin, Clayton-Smith Jill, Colley Alison, Buiting Karin, Dudding-Byth Tracy
Abstract excerpt
Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expression of the UBE3A gene at 15q11-q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11-q13 imprinting defect on the maternal...
Topics
- Adolescent
- Angelman Syndrome
- Child
- Chromosome Mapping
- DNA Methylation
- Facies
- Female
- Genetic Association Studies
- Genetic Heterogeneity
- Genomic Imprinting