Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis

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Figure 2.
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.

This Article

  1. Published in Advance June 12, 2015, doi: 10.1101/gr.191247.115 Genome Res. 25: 937-947

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