Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case.

Journal Article (Journal Article)

Familial adenomatous polyposis, caused by mutations in the adenomatous polyposis coli gene located at chromosome 5q21, is an autosomal dominant syndrome characterized by polyposis of the colon and rectum and nearly 100 percent progression to colorectal cancer. We report a case of familial adenomatous polyposis and mental retardation caused by a chromosomal deletion at 5q15-q22. Chromosomal analysis is considered part of the evaluation of children with mental retardation and developmental delay. The resulting karyotypes from high-resolution chromosomal analysis can help characterize large deletions, some of which involve known tumor suppressor genes. Because familial adenomatous polyposis may arise from de novo chromosomal deletions involving the adenomatous polyposis coli gene locus, individuals with chromosomal deletions involving 5q21 should be considered at-risk for familial adenomatous polyposis and offered standard screening with flexible sigmoidoscopy by 10 to 12 years of age.

Full Text

Duke Authors

Cited Authors

  • Finch, R; Moore, HG; Lindor, N; Jalal, SM; Markowitz, A; Suresh, J; Offit, K; Guillem, JG

Published Date

  • November 2005

Published In

Volume / Issue

  • 48 / 11

Start / End Page

  • 2148 - 2152

PubMed ID

  • 16228830

International Standard Serial Number (ISSN)

  • 0012-3706

Digital Object Identifier (DOI)

  • 10.1007/s10350-005-0177-7


  • eng

Conference Location

  • United States