Figure 3.

Circos plots of specific chromosomes involved in SVs with chromosome 17 and TP53 genomic region for two samples. (a) Sample 06 revealed two interchromosomal translocations involving the short arm of chromosome 17, chromosome Y and chromosome 1, leading to loss of sequence (red lines) surrounding the breakpoint. The arrow indicates localization of the TP53 gene. (b) Sample 43 showing an intrachromosomal translocation call targeting chromosomal bands 17p13.1 and 17q25.5 right next to the deletion region including the TP53 gene (arrow). Multiple interchromosomal translocations involving chromosomes 16 and 22 also lead to several gains (blue lines) and losses (red lines) on those chromosomes. (c) Whole genome view of chromosome 17 for samples 02 (6% by FISH), 42 (45% by FISH) without any deletion call using recommended CNV filter. As opposed to the 17q region which shows both blue and red signals, the absence of blue signals and predominance of red signals correlates with a potential lower copy number for the TP53 region in those samples. (d) Non-diploid sample 33, with 2 and 3 copies of TP53 by FISH, showing a potential deletion of 17p and potential false positive call.