TY - JOUR T1 - Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. JF - Journal of Medical Genetics JO - J Med Genet SP - 157 LP - 160 DO - 10.1136/jmg.33.2.157 VL - 33 IS - 2 AU - S Distante AU - S Nasioulas AU - G R Somers AU - D J Cameron AU - M A Young AU - S M Forrest AU - R J Gardner Y1 - 1996/02/01 UR - http://jmg.bmj.com/content/33/2/157.abstract N2 - 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. ER -