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

Publication ,  Journal Article
Finch, R; Moore, HG; Lindor, N; Jalal, SM; Markowitz, A; Suresh, J; Offit, K; Guillem, JG
Published in: Dis Colon Rectum
November 2005

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.

Duke Scholars

Published In

Dis Colon Rectum

DOI

ISSN

0012-3706

Publication Date

November 2005

Volume

48

Issue

11

Start / End Page

2148 / 2152

Location

United States

Related Subject Headings

  • Surgery
  • Male
  • Intellectual Disability
  • Humans
  • Chromosomes, Human, Pair 5
  • Chromosome Deletion
  • Adult
  • Adenomatous Polyposis Coli
  • 3202 Clinical sciences
  • 1103 Clinical Sciences
 

Citation

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MLA
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Finch, R., Moore, H. G., Lindor, N., Jalal, S. M., Markowitz, A., Suresh, J., … Guillem, J. G. (2005). Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case. Dis Colon Rectum, 48(11), 2148–2152. https://doi.org/10.1007/s10350-005-0177-7
Finch, Robert, Harvey G. Moore, Noralane Lindor, Syed M. Jalal, Arnold Markowitz, Jhanwar Suresh, Kenneth Offit, and Jose G. Guillem. “Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case.Dis Colon Rectum 48, no. 11 (November 2005): 2148–52. https://doi.org/10.1007/s10350-005-0177-7.
Finch R, Moore HG, Lindor N, Jalal SM, Markowitz A, Suresh J, et al. Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case. Dis Colon Rectum. 2005 Nov;48(11):2148–52.
Finch, Robert, et al. “Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case.Dis Colon Rectum, vol. 48, no. 11, Nov. 2005, pp. 2148–52. Pubmed, doi:10.1007/s10350-005-0177-7.
Finch R, Moore HG, Lindor N, Jalal SM, Markowitz A, Suresh J, Offit K, Guillem JG. Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case. Dis Colon Rectum. 2005 Nov;48(11):2148–2152.
Journal cover image

Published In

Dis Colon Rectum

DOI

ISSN

0012-3706

Publication Date

November 2005

Volume

48

Issue

11

Start / End Page

2148 / 2152

Location

United States

Related Subject Headings

  • Surgery
  • Male
  • Intellectual Disability
  • Humans
  • Chromosomes, Human, Pair 5
  • Chromosome Deletion
  • Adult
  • Adenomatous Polyposis Coli
  • 3202 Clinical sciences
  • 1103 Clinical Sciences