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Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation
E Smeets1, J P Fryns, H Van den Berghe
1Centre for Human Genetics, University of Leuven, Belgium.
Clinical Genetics
|June 1, 1994
Abstract:
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.