Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1986-12-31
|
| pubmed:abstractText |
Chromosome analysis of blood cells from a 42-year-old white male with mental retardation, colon carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible Gardner syndrome revealed a constitutional marker chromosome due to del(5)(q13q15) or del(5)(q15q22). A polymorphic chromosome #22 with enlarged satellites was inherited from the father, who is phenotypically normal, and was probably unrelated to the congenital malformations. This is the first report of a Gardner syndrome patient with an interstitial deletion of 5q.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
25
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
473-6
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:3789010-Chromosome Banding,
pubmed-meshheading:3789010-Chromosome Deletion,
pubmed-meshheading:3789010-Chromosomes, Human, Pair 5,
pubmed-meshheading:3789010-Colonic Neoplasms,
pubmed-meshheading:3789010-Gallbladder,
pubmed-meshheading:3789010-Gardner Syndrome,
pubmed-meshheading:3789010-Humans,
pubmed-meshheading:3789010-Intellectual Disability,
pubmed-meshheading:3789010-Liver,
pubmed-meshheading:3789010-Male
|
| pubmed:year |
1986
|
| pubmed:articleTitle |
Gardner syndrome in a man with an interstitial deletion of 5q.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|