Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation. 1994

E Smeets, and J P Fryns, and H Van den Berghe
Centre for Human Genetics, University of Leuven, Belgium.

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.

UI MeSH Term Description Entries
D008556 Melkersson-Rosenthal Syndrome An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531) Cheilitis Granulomatosa, Facial Neuropathy, Orofacial Edema,Granulomatous Cheilitis,Cheilitis Granulomatosa,Cheilitis Granulomatosa, Orofacial Edema, Facial Neuropathy,Facial Neuropathy, Cheilitis Granulomatosa, Orofacial Edema,Facial Neuropathy, Orofacial Edema, Cheilitis Granulomatosa,Macrocheilia, Facial Palsy, Edema,Melkerson-Rosenthal Syndrome,Melkersson Syndrome,Melkersson-Rosenthal-Miescher Syndrome,Miescher-Melkersson-Rosenthal Granulomatous Cheilitis,Orofacial Edema, Cheilitis Granulomatosa, Facial Neuropathy,Orofacial Edema, Facial Neuropathy, Cheilitis Granulomatosa,Rosenthal-Melkerson Syndrome,Rosenthal-Melkersson Syndrome,Syndrome, Melkerson Rosenthal,Cheilitis, Miescher-Melkersson-Rosenthal Granulomatous,Granulomatous Cheilitis, Miescher-Melkersson-Rosenthal,Melkerson Rosenthal Syndrome,Melkersson Rosenthal Miescher Syndrome,Melkersson Rosenthal Syndrome,Miescher Melkersson Rosenthal Granulomatous Cheilitis,Rosenthal Melkerson Syndrome,Rosenthal Melkersson Syndrome
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002891 Chromosomes, Human, Pair 21 A specific pair of GROUP G CHROMOSOMES of the human chromosome classification. Chromosome 21
D002899 Chromosomes, Human, Pair 9 A specific pair of GROUP C CHROMSOMES of the human chromosome classification. Chromosome 9
D005260 Female Females
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic

Related Publications

E Smeets, and J P Fryns, and H Van den Berghe
March 1990, Clinical genetics,
E Smeets, and J P Fryns, and H Van den Berghe
April 1995, American journal of medical genetics,
E Smeets, and J P Fryns, and H Van den Berghe
February 1984, European journal of pediatrics,
E Smeets, and J P Fryns, and H Van den Berghe
March 2018, QJM : monthly journal of the Association of Physicians,
E Smeets, and J P Fryns, and H Van den Berghe
November 1968, Southern medical journal,
E Smeets, and J P Fryns, and H Van den Berghe
January 1952, Der Nervenarzt,
E Smeets, and J P Fryns, and H Van den Berghe
January 1980, Acta stomatologica Belgica,
E Smeets, and J P Fryns, and H Van den Berghe
January 1968, Revista clinica espanola,
E Smeets, and J P Fryns, and H Van den Berghe
January 1954, Annales de dermatologie et de syphiligraphie,
E Smeets, and J P Fryns, and H Van den Berghe
January 1977, Nihon rinsho. Japanese journal of clinical medicine,
Copied contents to your clipboard!