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. 2015 Jul;25(7):937–947. doi: 10.1101/gr.191247.115

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© 2015 Weckselblatt et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/.

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Figure 2. — Maternal transmission of EGL305's chromothripsis. (A) A combination of G-banding and FISH revealed EGL305's four-way translocation between Chromosomes 1, 4, 7, and 15. SureSelect and Illumina HiSeq targeted to the Chromosome 1 deletion and Chromosome 7 duplication captured two junctions, and we inferred additional breakpoints. (B) EGL305's mother carries a more balanced form of the same four-way translocation.