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

Robert Finch, Harvey G. Moore, Noralane Lindor, Syed M. Jalal, Arnold Markowitz, Suresh Jhanwar, Kenneth Offit, Jose G. Guillem

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2148-2152
Number of pages5
JournalDiseases of the colon and rectum
Volume48
Issue number11
DOIs
StatePublished - Nov 1 2005

Keywords

  • Adenomatous polyposis coli gene
  • Deletion 5q
  • Familial adenomatous polyposis
  • Mental retardation

ASJC Scopus subject areas

  • Gastroenterology

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