Figure 3

Gain of chromosomal material on chromosomes 11 and 22 in patient sample D153 (A-D) and cryptic amplifications on chromosomes 20 and 22 in patient sample D154 (E-G). A) Chromosome 11 shows a gain of 11q24.3-qter. B) Breakpoint of copy number gain is inside the FLI1 locus. Based on aCGH results, the genomic breakpoint location is between 128148010 – 128186180. C) Chromosome 22 shows a gain of 22q11.21-q12.1. D) Breakpoint of copy number gain is inside the EWSR1 locus. Genomic breakpoint location is between 28007405 – 28007664. E) Chromosome 20 shows cryptic amplifications in 20q11.23, 20q13.12, and 20q13.12-q13.13, gain of 20q13.2-qter, and loss of 20q11.23-q13.12. F) Chromosome 22 shows loss of 20q11.23, uncontinuous amplifications in 22q11.23-q12.1 separated by segments of loss, gain of 20q12.2-q12.3, and loss of 20q12.3-qter. G) Copy number transition between amplification and gain in 20q12.1 is in the EWSR1 locus.