[Familial Mediterranean fever with pseudodominant inheritance].
Familial Mediterranean fever (FMF) is an autosomal, recessively inherited disease, mainly affecting patients from the Mediterranean basin. Owing to the recessive transmission, the disease in most of the affected families only occurs in the members of one generation. However, high consanguinity rates in populations with carrier frequencies as much as 1:5 may account for the occurrence of FMF in two or more successive generations, so-called pseudodominant inheritance. We report a case of pseudodominant inheritance in a Turkish family living in Denmark.
Tarp
B D
BD
Medicinsk-epidemisk afdeling A, Arhus Universitetshospital, Marselisborg Hospital. britta.tarp@dadlnet.dk
Obel
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N
D000328:Adult; D002648:Child; D003241:Consanguinity; D003718:Denmark; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010375:Pedigree; D014421:Turkey / Q000208:ethnology