Skip to main content
. Author manuscript; available in PMC: 2021 Jun 1.
Published in final edited form as: Ophthalmology. 2019 Dec 12;127(6):804–813. doi: 10.1016/j.ophtha.2019.12.005

Figure 2:

Figure 2:

Genome-wide copy number profiles for two representative retinoblastoma cases. Shown is inferred copy number calls (log2 scale) along each of the chromosomes. Top: Retinoblastoma case with focal homozygous/biallelic deletion on chromosome 13q14 that encompasses the 5’ portion of the RB1 tumor suppressor gene (blue asterisk). Additional chromosomal copy number variations include gains of proximal 1q, 5p, distal 6p, 7, 9q, portions of 17q, and distal Xp, as well as losses of distal 2p, distal 5q, distal 10q, distal 11q, 16q, and interstitial 17q. Bottom: Retinoblastoma case with focal high-level amplification of the MYCN oncogene on chromosome 2p24 (red asterisk). Additional chromosomal copy number variations include gains of 17q and 18q, as well as losses of distal 1p, 2, 3, interstitial 4q, 8p, distal 8q, 9p, 10, distal 11q, 14q, 15q, 16, 17p, and 19q.