Fig. 1.
Interphase FISH, metaphase FISH, and SNP microarray analyses. a Interphase FISH showed iAMP21 and ETV6-RUNX1 fusion. b Metaphase FISH indicated a derivative chromosome 21 with ETV6-RUNX1 fusion, an iAMP21, and a derivative 12 with a single RUNX1 signal. c SNP microarray showing the chromothripsis-like pattern of chromosome 21q11.2-21q22.3 (15,006,457 – 48,097,372)