Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The American journal of gastroenterology - 1 Oct 2001

Raedle J, Friedl W, Engels H, Koenig R, Trojan J, Zeuzem S

Abstract excerpt

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that typically presents with colorectal cancer secondary to extensive adenomatous polyps of the colon. The molecular basis and clinical phenotype of FAP are well known. Recurrent episodes of severe abdominal pain and a positive fecal occult blood test in an 18-yr-old boy with mild mental retardation and slight dysmorphic features of the face,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Adenomatous Polyposis Coli

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 5

Share to Gene Deletion

Share to Genes, APC

Share to Genotype

Share to Intellectual Disability

Share to Nucleic Acid Hybridization

Source

Identifiers

PMID: 11693343
DOI: 10.1111/j.1572-0241.2001.04674.x

Genes

FAP
APC

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.PMID 11693343Read ↗

Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5qSemantic proximity Read ↗

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

Could APC gene screening be useful in children with hepatoblastoma? Early onset of adenocarcinoma in a child with familial adenomatous polyposis and hepatoblastoma.Semantic proximity Read ↗

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.Semantic proximity Read ↗

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

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for familial adenomatous polyposis in a Dutch pedigree.Semantic proximity Read ↗

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature.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 ↗

Genome-wide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients.Semantic proximity Read ↗

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

Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APC.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.