[Presymptomatic detection of familial colonic polyposis]

Rev Med Interne. 1993;14(10):983. doi: 10.1016/s0248-8663(05)80101-8.
[Article in French]

Abstract

In familial adenomatous polyposis coli (APC) it is possible to detect APC carriers either by research of bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE) or by genetic diagnosis (APC gene is localized in 5q21). These detections were performed in 33 patients of four families with the same positivity for genetic typing (11 patients) or for CHRPE (11 patients) which thus avoided annual coloscopy.

Publication types

  • English Abstract

MeSH terms

  • Adenomatous Polyposis Coli / diagnosis
  • Adenomatous Polyposis Coli / prevention & control*
  • Adult
  • Child
  • Genetic Markers
  • Humans
  • Hypertrophy
  • Pigment Epithelium of Eye / pathology

Substances

  • Genetic Markers