In 70% of Prader-Willi (PWS) or Angelman Syndrome (AS), a large interstitial deletion of 3-4Mb at 15q11-13 is observed. Mutations of the imprinting centre and uniparental disomy account for the remaining cases of PWS. However, 20% of AS show biparental inheritance and normal methylation suggesting the involvement of a single AS gene.
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