Research article Custom CGH array profiling of copy number...., Ferlini et al. BMC Medical Genetics 2010, 11:64

Research article
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
Alessandra Ferlini*1, Matteo Bovolenta1, Marcella Neri
1, Francesca Gualandi 1, Alessandra Balboni 1, Anton Yuryev2, Fabrizio Salvi 3, Donato Gemmati 4, Alberto Liboni 4 and Paolo Zamboni 4
www.biomedcentral.com/1471-2350/11/64
Abstract
Background: Multiple sclerosis (MS) is a complex disorder thought to result from an interaction between environmental and genetic predisposing factors which have not yet been characterised, although it is known to be associated with the HLA region on 6p21.32. Recently, a picture of chronic cerebrospinal venous insufficiency (CCSVI), consequent to stenosing venous malformation of the main extra-cranial outflow routes (VM), has been described in patients affected with MS, introducing an additional phenotype with possible pathogenic significance.

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