Article
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
Journal of medical genetics - 1 Feb 1996
Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent R J
Abstract excerpt
We report the clinical features in 27 Australasian patients with Angelman syndrome (AS), all with a DNA deletion involving chromosome 15(q11-13), spanning markers from D15S9 to D15S12, about 3 center dot 5 Mb of DNA. There were nine males and 18 females. All cases were sporadic. The mean age at l...
Topics
- Adolescent
- Adult
- Angelman Syndrome
- Anthropometry
- Ataxia
- Australia
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 15
- DNA Mutational Analysis
- Dwarfism
- Epilepsy
- Female