Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses

Am J Med Genet. 1998 Jul 7;78(3):242-4. doi: 10.1002/(sici)1096-8628(19980707)78:3<242::aid-ajmg6>3.0.co;2-r.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Angelman Syndrome / diagnosis*
  • Angelman Syndrome / genetics
  • Blotting, Southern
  • Child
  • DNA Methylation*
  • False Negative Reactions
  • Female
  • Genetic Counseling
  • Genetic Testing / methods*
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Metaphase
  • Microsatellite Repeats
  • Pedigree
  • Phenotype
  • Polymorphism, Restriction Fragment Length
  • Prader-Willi Syndrome / diagnosis*
  • Prader-Willi Syndrome / genetics