Angelman syndrome | Anatomy2Medicine

Angelman syndrome

Angelman syndrome

  • Chr 15, normally active maternal (AngelMan = maternal) allele deleted.
  • MR, seizures ataxia, inappropriate laughter (“happy puppet”).
  • Other parent’s allele inactivated / imprinted by methylation
  • can also be from uniparental disomy (2 copies of chr from 1 parent).
  • Prader-Willi syndrome = paternal counterpart

(“happy puppet”).