Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region

J Med Genet. 2002 Mar;39(3):202-4. doi: 10.1136/jmg.39.3.202.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosome Breakage / genetics
  • Chromosomes, Human, Pair 15 / genetics*
  • Female
  • Gene Duplication*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Microsatellite Repeats / genetics
  • Polymerase Chain Reaction
  • Prader-Willi Syndrome / genetics*
  • Prader-Willi Syndrome / physiopathology
  • Sequence Deletion / genetics*