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" |
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