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. Author manuscript; available in PMC: 2018 Feb 1.
Published in final edited form as: Hum Mutat. 2016 Dec 5;38(2):180–192. doi: 10.1002/humu.23146

Figure 1. Molecular cytogenetic and genomic findings in subjecft 862-06Ö.

Figure 1

A) G-banded chromosomes showing the balanced translocation between chromosome 16 and chromosome 22 present in individual 862-06Ö (the aberrant chromosome shown to the left)

(B) FISH analysis with BAC clone RP11-350D02 (red) localized at chr16p11 (Ensemble, GRCh37). The signal is split between the two derivative chromosomes (der16 and der22).

(C) Circos plot illustrating the WGS results in individual 862-06Ö. Fusion events between chromosome 16 and 22, as predicted by FindTranslocations, from read pair mapping data are illustrated as grey lines. On chromosome 16, COG7 is disrupted by the breakpoint. The chromosomes are karyogram painted, chr22 in gray and chr16 in blue, with the centromeres shown shaded dark red. Copy number changes according to CNVnator are shown in the central ring, with a light red bar corresponding to low coverage and light green to high. As can be seen, short read sequence mapping does not cover the centromeric region or the heterochromatic 22p-arm. All copy number changes were evaluated as benign normal variation for this patient.

(D) Sanger sequencing traces showing the chromosomal junctions at the nucleotide level with der16 on top and der22 on the bottom. A two-nucleotide microhomology (TT) that may have originated from either parental chromosome is present in the der16 breakpoint junction (black box) and a clean break is present on der22 (black vertical line).