title: Chromosome rearrangement with no apparent gene mutation in familial adenomatous polyposis and hepatocellular neoplasia.
abstract: We have identified a constitutional inversion in chromosome 5 associated with familial adenomatous polyposis in three generations of a Mexican family. Two of three siblings developed hepatic neoplasia in infancy. The gene truncation assay failed to demonstrate a truncated protein in the segment harboring the adenomatous polyposis coli (APC) genes. Polymerase chain reaction (PCR) amplification of APC gene coding exons and sequencing of PCR products did not reveal any significant mutation. The data suggest that in this family, the phenotype may be the result of a "position effect."
authors.affiliation: Department of Pathology and Laboratory Medicine. (Anatomical Pathology, Cytogenetics), MCP Hahnemann University School of Medicine and St. Christopher's Hospital for Children, Erie Avenue at Front Street, Philadelphia, PA 19134, USA.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: de Chadarévian
authors.forename: Stephen
authors.initials: S
authors.lastname: Dunn
authors.forename: J Jeffrey
authors.initials: JJ
authors.lastname: Malatack
authors.forename: Arupa
authors.initials: A
authors.lastname: Ganguly
authors.forename: Uwe
authors.initials: U
authors.lastname: Blecker
authors.forename: Hope H
authors.initials: HH
authors.lastname: Punnett
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5; D004273:DNA, Neoplasm / Q000032:analysis; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D018197:Hepatoblastoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008113:Liver Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D004273:DNA, Neoplasm