| pubmed-article:20933620 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20933620 | lifeskim:mentions | umls-concept:C0238598 | lld:lifeskim |
| pubmed-article:20933620 | lifeskim:mentions | umls-concept:C0024554 | lld:lifeskim |
| pubmed-article:20933620 | lifeskim:mentions | umls-concept:C0038454 | lld:lifeskim |
| pubmed-article:20933620 | lifeskim:mentions | umls-concept:C0795843 | lld:lifeskim |
| pubmed-article:20933620 | lifeskim:mentions | umls-concept:C1520481 | lld:lifeskim |
| pubmed-article:20933620 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:20933620 | lifeskim:mentions | umls-concept:C1336938 | lld:lifeskim |
| pubmed-article:20933620 | lifeskim:mentions | umls-concept:C1314939 | lld:lifeskim |
| pubmed-article:20933620 | lifeskim:mentions | umls-concept:C0332240 | lld:lifeskim |
| pubmed-article:20933620 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:20933620 | pubmed:dateCreated | 2011-2-28 | lld:pubmed |
| pubmed-article:20933620 | pubmed:abstractText | We report a 35-year-old male with a ring chromosome 12 originally diagnosed 20 years prior to presentation with an ischemic stroke. Array CGH analysis revealed a sub-microscopic microdeletion and microduplication within 12p13.3 and a microdeletion in 12q24.33. FISH analysis further revealed that the duplication was in an inverted orientation and included exons 35-52 of the dosage-sensitive Von Willebrand Factor (VWF) gene. Partial duplication of this gene, which has a role in the clotting cascade, suggests a potential mechanism for generating a pro-thrombotic state that may have contributed to a premature cerebrovascular event. Evidence of raised VWF antigen levels and VWF activity levels in the highest quartile provides support for this hypothesis. This case illustrates that when a ring chromosome is identified, the possibility of cryptic genomic rearrangements needs to be considered as these may have implications in predicting natural history. | lld:pubmed |
| pubmed-article:20933620 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20933620 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20933620 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20933620 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20933620 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20933620 | pubmed:issn | 1878-0849 | lld:pubmed |
| pubmed-article:20933620 | pubmed:author | pubmed-author:WillattLionel... | lld:pubmed |
| pubmed-article:20933620 | pubmed:author | pubmed-author:CotterPaul... | lld:pubmed |
| pubmed-article:20933620 | pubmed:author | pubmed-author:O'BrienEoin... | lld:pubmed |
| pubmed-article:20933620 | pubmed:author | pubmed-author:Nik-ZainalSer... | lld:pubmed |
| pubmed-article:20933620 | pubmed:author | pubmed-author:AbbottKristin... | lld:pubmed |
| pubmed-article:20933620 | pubmed:copyrightInfo | Copyright © 2010 Elsevier Masson SAS. All rights reserved. | lld:pubmed |
| pubmed-article:20933620 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20933620 | pubmed:volume | 54 | lld:pubmed |
| pubmed-article:20933620 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20933620 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20933620 | pubmed:pagination | 97-101 | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:meshHeading | pubmed-meshheading:20933620... | lld:pubmed |
| pubmed-article:20933620 | pubmed:articleTitle | Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male. | lld:pubmed |
| pubmed-article:20933620 | pubmed:publicationType | Letter | lld:pubmed |
| pubmed-article:20933620 | pubmed:publicationType | Case Reports | lld:pubmed |
