Figure 3.
Verification of chromothripsis in LFS-MB2 and LFS-MB3 by whole-genome sequencing. (A) Copy-number profiles in LFS-MB2. (B) Predicted double minute chromosome structure. *Segments connected to centromere-like repeat sequences. (C) FISH confirming co-localization of fragments from chromosomes 3 and X in LFS-MB2 (RP11-245A6, green and CTD-2530H13, red); positions of FISH probes are shown on the inner-most circle of panel (B)). PCR experiments also confirmed this co-localization (see Figure S2). (D) Read-depth plot showing chromosome 15 rearrangements resulting from chromothripsis in LFS-MB3. Links connecting amplified regions are displayed on top (other links involving rearranged segments are displayed at the bottom).