Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy

Clin Genet. 2007 Oct;72(4):378-80. doi: 10.1111/j.1399-0004.2007.00860.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosome Aberrations
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 15*
  • DNA Methylation
  • Female
  • Gene Duplication*
  • Humans
  • Infant
  • Microsatellite Repeats / genetics
  • Models, Genetic
  • Mosaicism*
  • Phenotype
  • Polymerase Chain Reaction
  • Prader-Willi Syndrome / genetics*
  • Uniparental Disomy / genetics*