Article
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
Human genetics - 1 May 1995
van den Ouweland A M, van der Est M N, Wesby-van Swaay E, Tijmensen T S, Los F J, Van Hemel J O, Hennekam R C, Meijers-Heijboer H J, Niermeijer M F, Halley D J
Abstract excerpt
Previously, 158 nuclear families with probands suspected of having either Prader Willi (PWS) or Angelman syndrome (AS) were analyzed with polymorphic DNA markers from the 15q11-13 region. These cases have been re-evaluated with the probe PW71 (D15S63), which detects parent-of-origin-specific alle...
Topics
- Alleles
- Angelman Syndrome
- Blotting, Southern
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- DNA
- DNA Probes
- DNA, Satellite
- Female
- Genetic Markers
- Humans
- Male
- Methylation
- Polymorphism, Restriction Fragment Length
- Prader-Willi Syndrome