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Article

Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome

1 Feb 1998

Abstract excerpt

A cytogenetically visible interstitial deletion of chromosome band 10q23 was found in a 6-year-old boy with mental retardation, dysmorphic features, and juvenile polyposis coli. In order to map this patient's deletion physically, we performed fluorescence in situ hybridization by using yeast artificial chromosomes (YACs) in the vicinity of the deletion. Five YACs that span an 11-15 cM region within the deletion...

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Identifiers

PMID: 9491322
DOI: 10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndromePMID 9491322Read ↗

A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.Semantic proximity Read ↗

Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22–23Semantic proximity Read ↗

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.Semantic proximity Read ↗

Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease.Semantic proximity Read ↗

First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosity.Semantic proximity Read ↗

Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.Semantic proximity Read ↗

Aggressive juvenile polyposis in children with chromosome 10q23 deletion.Semantic proximity Read ↗

The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.Semantic proximity Read ↗

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.Semantic proximity Read ↗

Sporadic breast cancers exhibit loss of heterozygosity on chromosome segment 10q23 close to the Cowden disease locusSemantic proximity Read ↗

Localization of the gene for Cowden disease to chromosome 10q22–23Semantic proximity Read ↗

Genetics of Cowden syndrome: through the looking glass of oncology.Semantic proximity Read ↗

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