Article
Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR.
American journal of medical genetics - 1 Apr 1990
Gregory C A, Kirkilionis A J, Greenberg C R, Chudley A E, Hamerton J L
Abstract excerpt
The Prader-Willi chromosome region (PWCR) in Prader-Willi syndrome patients was analyzed by using genomic DNA probes mapping to 15q11.2-q12. The present report includes analysis of dosage by RFLP and densitometric studies, and analysis of restriction patterns. Twelve Prader-Willi syndrome (PWS) p...
Topics
- Adolescent
- Adult
- Blotting, Southern
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosomes, Human, Pair 15
- DNA Probes
- Female
- Gene Rearrangement
- Genotype
- Humans
- Karyotyping
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length
- Prader-Willi Syndrome
- Restriction Mapping