Figure 5

Copy number analysis (one representative sample with SDH deficiency) shows isochromosome 1 with one copy loss of the entirety of 1p and relative gain of 1q. SDHB, located on 1p, shows one copy loss across the entire gene and two copy loss at exon 3 (arrow) suggestive of an intragenic deletion or splicing event with subsequent loss of heterozygosity in the tumor. Of note, SDHC is located on 1q, and demonstrates no mutational events and low copy gain.