Chromothripsis of chromosome 5 in MDS. Multiple regions of DNA copy number (CN) loss are detectable by SNP arrays comparing a tumor sample (MDS-derived sAML) with the patient's normal DNA (obtained from a skin biopsy) (top panel). Whole-genome sequence data of the tumor/normal pair demonstrates loss of heterozygosity (LOH) at the regions of copy number loss (middle panel). Multiple inversions (INV) and intrachromosomal translocations (ITX) involving retained segments flanking the deletions (DEL) are computationally predicted to be rearranged from the whole-genome sequence data (bottom panel; T.G. and M.J.W., unpublished data).