Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation.
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.
Smeets
E
E
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Van den Berghe
H
H
D000328:Adult; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008556:Melkersson-Rosenthal Syndrome / Q000235:genetics*; D014178:Translocation, Genetic