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Article

Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.

Journal of medical genetics - 1 Apr 1994

Barber J C, Ellis K H, Bowles L V, Delhanty J D, Ede R F, Male B M, Eccles D M

Abstract excerpt

We present the clinical and laboratory findings in an institutionalised adult patient originally referred for autism. A high risk of colorectal cancer was predicted when an interstitial deletion of the long arm of chromosome 5, del(5)(q15q22.3), was detected in her lymphocytes and deletion of the MCC and APC genes confirmed by molecular analysis. Adenomatous polyposis coli and carcinoma of the rectum were...

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Source

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Identifiers

PMID: 8071957
DOI: 10.1136/jmg.31.4.312
PMCID: PMC1049804

Genes

APC
MCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.PMID 8071957Read ↗

Localization of the gene for familial adenomatous polyposis on chromosome 5.Semantic proximity Read ↗

A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.Semantic proximity Read ↗

MCC, a candidate familial polyposis gene in 5q.21, shows frequent allele loss in colorectal and lung cancer.Semantic proximity Read ↗

Identification of FAP Locus Genes from Chromosome 5q21Semantic proximity Read ↗

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.Semantic proximity Read ↗

Genetic characterization of the APC locus involved in familial adenomatous polyposis.Semantic proximity Read ↗

Molecular nature of chromosome 5q loss in colorectal tumors and desmoids from patients with familial adenomatous polyposis.Semantic proximity Read ↗

A CA-repeat polymorphism close to the adenomatous polyposis coli (APC) gene offers improved diagnostic testing for familial APC.Semantic proximity Read ↗

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[Allelic analysis on chromosome 5 in sporadic colorectal cancer patients].Semantic proximity Read ↗

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