Article Text

PDF

Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.
  1. S Distante,
  2. S Nasioulas,
  3. G R Somers,
  4. D J Cameron,
  5. M A Young,
  6. S M Forrest,
  7. R J Gardner
  1. The Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.

    Abstract

    A girl aged 5 years 8 months presented with rectal bleeding; her father had had familial adenomatous polyposis (FAP) and a colectomy at the age of 23. Endoscopy showed extensive polyposis and she had a colectomy. The proband and her father had the common codon 1309 5 bp deletion APC mutation. This mutation predisposes to early onset of FAP, and consideration needs to be given to having molecular testing of at risk members of these families done in childhood.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.