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. Author manuscript; available in PMC: 2022 Jan 4.
Published in final edited form as: J Med Genet. 2020 Oct 16;59(1):18–22. doi: 10.1136/jmedgenet-2020-107308

Figure 2: Breakpoint mapping of germline translocation between chromosomes 1 and 3.

Figure 2:

Whole genome sequencing identified the potential breakpoints on the derivative chromosomes resulting from the t(1;3)(p36.3;p25) translocation and PCR primers were designed to amplify both breakpoint regions. Sanger sequencing of the resulting PCR products demonstrated the exact breakpoints on both derivative chromosomes. The breakpoint on the derivative chromosome 1 had an inserted 10 bp duplication of upstream chromosome 3 sequence, with the last unique base of chromosome 3p at 10,191,119 bp (hg19) and the first unique base of chromosome 1p at 716,698 bp (hg19). The breakpoint on the derivative chromosome 3 had a 2 bp sequence overlap with the last unique base of chromosome 1p at 716,702 bp and the first unique base of chromosome 3p at 10,191,126 bp (hg19). The breakpoint on chromosome 3p occurred within intron 2 of the VHL gene.