Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5888169 | Experimental and Molecular Pathology | 2015 | 6 Pages |
Abstract
This is the first report on a HES patient associated with a novel complex three-way translocation t(2;11;5)(p21.3;q13.5;q23.2) and a submicroscopic deletion in chromosome band 11p14.3. The study also demonstrates the benefits of oligo-based aCGH analysis in detecting hidden disease related chromosomal abnormalities. The present findings provide additional clues to unravel important molecular pathways in HES to obtain the full spectrum of acquired chromosomal and genomic aberrations in this heterogeneous disease entity. As more cases become characterized this may eventually improve on classification and treatment options.
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Authors
Eigil Kjeldsen,