EGL302's chromothripsis translocations. (A) EGL302's karyotype; red arrows indicate translocation chromosomes. (B) FISH confirms the insertion of 8q23.3 (probe RP11-3A12) to the long arm of Chromosome 3 (3p26.6 control probe CTC-228K22) and the translocation of 9pter (probe CTB-41L13) to the long arm of Chromosome 8 (8p23.3 control probe RP11-410N18). (C) Model of the rearrangements in EGL302. The balanced translocation between Chromosomes 11 and 13 was confirmed by Sanger sequencing. Chromothripsis between Chromosomes 3, 8, and 9 results in many exchanges between the three chromosomes. (D) Example of parent-of-origin analysis for EGL302. The underlined guanine (G) at the breakpoint is derived from the paternal (P), not the maternal (M), allele.