Article
Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome.
Human genetics - 1 Nov 1991
Gregory C A, Schwartz J, Kirkilionis A J, Rudd N, Hamerton J L
Abstract excerpt
Six Prader-Willi syndrome (PWS) patients with normal karyotypes and their parents were analyzed to determine the nature of the molecular aberrations present in the proximal region of 15q and to determine the parental origin of the aberrant chromosome 15. In addition, the likelihood that uniparental disomy plays a significant role in the etiology of PWS patients with normal karyotypes was studied. Restriction...
Topics
- Blotting, Southern
- Chromosome Aberrations
- Chromosomes, Human, Pair 15
- Female
- Genotype
- Humans
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length
- Prader-Willi Syndrome