Article
Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for familial adenomatous polyposis in a Dutch pedigree.
Genes, chromosomes & cancer - 1 Jul 1995
van der Luijt R B, Tops C M, Khan P M, van der Klift H M, Breukel C, van Leeuwen-Cornelisse I S, Dauwerse H G, Beverstock G C, van Noort E, Snel P
Abstract excerpt
Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer caused by germline mutations in the adenomatous polyposis coli (APC) gene located on chromosome segment 5q21-q22. We detected a germline rearrangement of the APC gene in a Dutch FAP family by screening genomi...
Topics
- Adenomatous Polyposis Coli
- Adenomatous Polyposis Coli Protein
- Adult
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 5
- Cytoskeletal Proteins
- Female
- Gene Rearrangement
- Genetic Linkage
- Humans
- In Situ Hybridization, Fluorescence