Figure 2. Case 2: Chromosomal Copy Number Variation Profile Taken After Primary Enucleation in a Patient With a 13q− Deletion Indicating Predisposition to the Development of Retinoblastoma.

A and B, Chromosomal analysis demonstrated a heterogeneous sample with clonal differences in the chromosomal copy number variations between the cell-free DNA in the aqueous humor (AH) (A) and tumor (B). C, Genomic DNA from a buccal swab demonstrates the same 13q deletion (13q13.3-q21.32). D, The overlay of the chromosomal copy number variation profiles is shown (AH is blue, tumor is red, and buccal swab is green).