Linked Life Data

9679749

Source:http://linkedlifedata.com/resource/pubmed/id/9679749

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-7-30
pubmed:abstractText
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis associated with increased risk of mesenchymal tumors. The putative gene has been provisionally assigned to chromosome 8. Using a cytogenetic-molecular approach, we studied lymphocytes, fibroblasts, osteosarcoma (OS) and malignant fibrous histiocytoma (MFH) from 2 affected fraternal twins, looking for constitutive markers of chromosome instability and tumor chromosomal changes which might reflect the common genetic background. The rate of spontaneous chromosome aberrations was not increased in lymphocytes. Conversely, karyotyping of primary fibroblasts from one sib evidenced chromosome breaks and both numerical and structural chromosome changes in 24% and 17% of the metaphases respectively. FISH of a 8q21.3 cosmid allowed us to detect trisomy of the target region on 7% of fibroblast nuclei from both sibs, 47% and 12% of OS and MFH cells. Pronounced chromosomal instability and clonal rearrangements leading to different chromosome-8 derivatives were detected in both tumors. CGH experiments showed multiple gains/losses, among which del(6q), also revealed by cytogenetics, and 7p gain were common, whereas 8q amplification was present only in OS. Chromosomal instability, observed in fibroblasts from the RTS patients studied, accounts for the increased risk of mesenchymal tumors in these patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0020-7136
pubmed:author
pubmed:issnType
Print
pubmed:day
12
pubmed:volume
77
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
504-10
pubmed:dateRevised
2007-7-24
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome.
pubmed:affiliation
Department of Biology and Genetics, Medical Faculty, University of Milan, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't