Article
Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.
American journal of medical genetics - 1 Oct 1991
Hamabe J, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N
Abstract excerpt
Deletion and RFLP studies with 5 cloned DNA markers localized at 15q11.2 were performed in 50 patients with the Prader-Willi syndrome (PWS). A one-copy density (deletion) for at least one of 4 loci, D15S9, D15S11, D15S10, D15S12, was detected in 32 (64%) of the 50 patients; deletions of each of t...
Topics
- Adolescent
- Adult
- Blotting, Southern
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- DNA Mutational Analysis
- Female
- Humans
- Infant
- Male
- Phenotype
- Polymorphism, Restriction Fragment Length
- Prader-Willi Syndrome
- Translocation, Genetic