Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype

Am J Med Genet. 1999 May 7;84(1):76-9. doi: 10.1002/(sici)1096-8628(19990507)84:1<76::aid-ajmg16>3.0.co;2-f.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosomes, Human, Pair 14 / genetics*
  • Female
  • Genetic Markers / genetics
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Phenotype
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics*
  • Translocation, Genetic

Substances

  • Genetic Markers