HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

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

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.
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
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)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!


Choose Username:
Email:
Password:
Verify Password: