Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15

J Med Genet. 2002 Feb;39(2):E4. doi: 10.1136/jmg.39.2.e4.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / genetics*
  • Child
  • Chromosome Banding
  • Chromosomes, Human, Pair 15 / genetics*
  • Fatal Outcome
  • Humans
  • Isochromosomes / genetics*
  • Male
  • Phenotype
  • Uniparental Disomy / genetics