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Keywords:

  • recurrence risks;
  • recessive locus;
  • pedigree analysis;
  • incomplete penetrance;
  • phenocopies

Abstract

We have analysed the pedigrees of 265 probands with Crohn disease, collected from a specialty clinic at the University of Düsseldorf. Complex segregation analysis suggests the presence of a recessive gene with incomplete penetrance for susceptibility to the disease with no residual causes of family resemblance. However, a proportion of the isolated cases are probably due to phenocopies, this proportion being greatest among cases with an advanced age of onset.