Familial adenomatous polyposis: a submicroscopic deletion at the APC locus in a family with mentally normal patients

Hum Genet. 1996 Feb;97(2):204-8. doi: 10.1007/BF02265266.


Cytogenetically visible deletions that include the adenomatosis polyposis coli (APC) locus have repeatedly been reported in mentally handicapped polyposis patients. We report on a family with a submicroscopic deletion of about 200 kb including more than the 3' half of the APC gene and the adjacent DP1 gene. The deletion was detected by linkage analysis with flanking and intragenic markers and proven by in situ hybridisation with intragenic cosmid clones. All the familial adenomatous polyposis (FAP) patients and persons at risk in the family show normal behaviour and intelligence. Thus, it is conceivable that at least some of the FAP patients in whom mutations could not be identified by routine methods may have large but submicroscopic deletions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adult
  • Cell Line
  • Chromosome Mapping
  • Female
  • Genes, APC / genetics*
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Lymphocytes
  • Male
  • Middle Aged
  • Pedigree
  • Sequence Deletion / genetics*