Familial Adenomatous Polyposis and Mental Retardation Caused by a de novo Chromosomal Deletion at 5q15-q22: Report of a Case View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-11

AUTHORS

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

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. More... »

PAGES

2148-2152

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10350-005-0177-7

DOI

http://dx.doi.org/10.1007/s10350-005-0177-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1049275520

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16228830


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