Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation

Clin Genet. 1994 Jun;45(6):323-4. doi: 10.1111/j.1399-0004.1994.tb04041.x.


In this report we describe a 26-year-old female with the typical clinical symptoms and signs of Melkersson-Rosenthal syndrome, an autosomal dominant with variable expression, and a de novo t(9;21)(p11;p11), and suggest that the "Melkersson-Rosenthal gene" is located at 9p11.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosomes, Human, Pair 21*
  • Chromosomes, Human, Pair 9*
  • Female
  • Genes, Dominant*
  • Humans
  • Melkersson-Rosenthal Syndrome / genetics*
  • Translocation, Genetic*