Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male.

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.
AuthorsSerena Nik-Zainal, Paul E Cotter, Lionel R Willatt, Kristin Abbott, Eoin W O'Brien
JournalEuropean journal of medical genetics (Eur J Med Genet) 2011 Jan-Feb Vol. 54 Issue 1 Pg. 97-101 ISSN: 1878-0849 [Electronic] Netherlands
PMID20933620 (Publication Type: Case Reports, Letter)
CopyrightCopyright © 2010 Elsevier Masson SAS. All rights reserved.
Chemical References
  • von Willebrand Factor
  • 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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