Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study

• Published in: Journal of medical genetics Vol. 33; no. 2; pp. 157 - 160
• Main Authors: Distante, S, Nasioulas, S, Somers, G R, Cameron, D J, Young, M A, Forrest, S M, Gardner, R J
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.02.1996; BMJ; BMJ Publishing Group LTD
• Subjects: Adenomatous Polyposis Coli - diagnosis; Adult; Age of Onset; Aged; Biological and medical sciences; Child; Child, Preschool; Codon - genetics; Colectomy; DNA Mutational Analysis; Female; Gastroenterology. Liver. Pancreas. Abdomen; Gastrointestinal Hemorrhage - diagnosis; Gastrointestinal Hemorrhage - etiology; Genes, APC; Humans; Male; Medical sciences; Middle Aged; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Tumors; Human; Case study; Deletion; Digestive diseases; Genetics; Intestinal disease; Tumor; Exploration; Diagnosis; Familial adenomatous polyposis coli; Child; Genetic disease

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 m...