Abstract |
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.
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Authors | Serena Nik-Zainal, Paul E Cotter, Lionel R Willatt, Kristin Abbott, Eoin W O'Brien |
Journal | European journal of medical genetics
(Eur J Med Genet)
2011 Jan-Feb
Vol. 54
Issue 1
Pg. 97-101
ISSN: 1878-0849 [Electronic] Netherlands |
PMID | 20933620
(Publication Type: Case Reports, Letter)
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Copyright | Copyright © 2010 Elsevier Masson SAS. All rights reserved. |
Chemical References |
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Topics |
- Adult
- Chromosome Banding
- Chromosome Inversion
- Chromosomes, Human, Pair 12
(genetics)
- Gene Duplication
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Ring Chromosomes
- Stroke
(genetics)
- von Willebrand Factor
(genetics)
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