Linked Life Data

12700605

Source:http://linkedlifedata.com/resource/pubmed/id/12700605

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2003-4-17
pubmed:abstractText
We report the molecular characterization of a patient with mild craniofacial and acallosal central nervous system midline defects and a t(4;14)(q25)(q13) chromosome. With the use of flow sorted chromosomes, the translocation breakpoint junction was defined within a 100 kb region with markers mapping to chromosomes 4q25 and 14q13. Analysis of genomic sequences demonstrated that the breakpoint junction at 14q13 was within the third intron of the 5' untranslated region of the MIPOL1 gene (GI: 22048098). On chromosome 4q25, two breakpoint junctions were found. One was about 47 kb distal to the 5' end of a putative gene (GI: 8923996) with unknown function but with partial similarity to kinases, and a second breakpoint was within the 3' end of the PITX2 gene (GI: 21361182) that resulted in the deletion of exons 6 and 7 of this gene. We also searched for microdeletions in a panel of candidate genes mapping within 2 Mb of the translocation breakpoint junction on chromosomes 4 and 14, however, no evidence for deletions or rearrangements was found. The finding of two breaks on chromosome 4q25 suggests a complex microrearrangement, such as an inversion, in addition to a translocation in this patient.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
315-24
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
pubmed:affiliation
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada T6G 2H7.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't