Linked Life Data

18992642

Source:http://linkedlifedata.com/resource/pubmed/id/18992642

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-11-10
pubmed:abstractText
Synovial sarcoma is cytogenetically characterized by the specific translocation t(X;18)(p11.2;q11.2), which results in the fusion of the SYT gene from chromosome 18 (18q11) with one of the genes from the X chromosome (Xp11) SSX1, SSX2, or SSX4. We present the case of a 51-year-old woman with a diagnosis of monophasic synovial sarcoma in which chromosome banding analysis did not reveal the presence of the typical t(X;18)(p11.2;q11.2), but instead found monosomy of chromosomes X and 18 and a marker chromosome. FISH analyses of the marker chromosome showed a rearrangement of the 5'SYT region and the presence of pericentromeric sequences of chromosomes 18 and X. Comparative genomic hybridization detected losses of Xq21qter, 18p, and 18q12qter, indicating that the marker also contained DNA sequences from Xp22q21, and reverse-transcription polymerase chain reaction demonstrated a SYT-SSX2 fusion transcript. We uncovered a complex cryptic rearrangement that gives rise to the characteristic SYT-SSX2 fusion gene in a monophasic synovial sarcoma.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1873-4456
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
187
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
45-9
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Cryptic chromosome rearrangement resulting in SYT-SSX2 fusion gene in a monophasic synovial sarcoma.
pubmed:affiliation
Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal.
pubmed:publicationType
Journal Article, Case Reports