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


Authors: Finch, R.; Moore, H. G.; Lindor, N.; Jalal, S. M.; Markowitz, A.; Jhanwar, S.; Offit, K.; Guillem, J. G.
Article Title: Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: Report of a case
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. © The American Society of Colon and Rectal Surgeons.
Keywords: adult; human tissue; clinical feature; anamnesis; case report; gene locus; tumor suppressor gene; laboratory test; proctocolectomy; chromosome deletion; chromosome analysis; karyotype; sigmoidoscopy; colon polyp; growth retardation; adenomatous polyp; familial adenomatous polyposis; chromosome 5q; chromosomes, human, pair 5; adenomatous polyposis coli; rectum polyp; mental deficiency; chromosome deletion 5; adenomatous polyposis coli gene; deletion 5q; mental retardation; stomach polyp
Journal Title: Diseases of the Colon and Rectum
Volume: 48
Issue: 11
ISSN: 0012-3706
Publisher: Lippincott Williams & Wilkins  
Date Published: 2005-11-01
Start Page: 2148
End Page: 2152
Language: English
DOI: 10.1007/s10350-005-0177-7
PUBMED: 16228830
PROVIDER: scopus
DOI/URL:
Notes: --- - "Cited By (since 1996): 6" - "Export Date: 24 October 2012" - "CODEN: DICRA" - "Source: Scopus"
Altmetric Score
MSK Authors
  1. Harvey Moore
    30 Moore
  2. Kenneth Offit
    519 Offit
  3. Arnold J Markowitz
    109 Markowitz
  4. Jose Guillem
    373 Guillem
  5. Suresh C Jhanwar
    217 Jhanwar
  6. Robert Finch
    3 Finch