Article
Uniparental paternal disomy in Angelman's syndrome.
Lancet (London, England) - 23 Mar 1991
Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour J A, Jeffreys A J, Pembrey M E
Abstract excerpt
Angelman's syndrome and Prader-Willi syndrome are both causes of mental retardation with recognisable, but quite different, clinical phenotypes. Both are associated with deletions of chromosome 15q11-13, of maternal origin in Angelman's and paternal in Prader-Willi. Prader-Willi can arise by inhe...
Topics
- Alleles
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- DNA Probes
- Electroencephalography
- Face
- Fathers
- Female
- Genomic Library
- Humans
- Intellectual Disability
- Karyotyping
- Male
- Mothers
- Phenotype
- Recurrence