Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1985-7-16
pubmed:abstractText
A rare case of a one-year-old child with Wilms' tumor, aniridia and glaucoma is described, in whom bone marrow chromosome analysis showed the presence of an interstitial microdeletion on the short arm of chromosome 11, presumably involving the p13 band. Research of the enzyme activity of RBC catalase showed a 40% reduction. This finding is compatible with the loss of the 11p13 band which contains the gene coding this enzyme. 11p13 deletion in Wilms' tumor and 13q interstitial deletion in retinoblastoma provide a rare case of prezygotic chromosome abnormality, which may be considered to have a determinant role in the tumor etiopathogenesis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0300-8916
pubmed:author
pubmed:issnType
Print
pubmed:day
30
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
119-21
pubmed:dateRevised
2008-12-12
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
11p13 deletion and reduced RBC catalase in a patient with aniridia, glaucoma and bilateral Wilms' tumor.
pubmed:publicationType
Journal Article, Case Reports