Skip to main content
. 2022 Jan 31;67(7):405–410. doi: 10.1038/s10038-022-01018-z

Fig. 1. Molecular genetic findings.

Fig. 1

A Split-reads and discordant pairs retrieved from WGS and visualized on IGV are shown in different colors matching for their pairs. Non-split-reads that map to the genome of reference are shown in gray. Dashed vertical lines represent the breakpoints. WGS identified a ~10 kb spanning deletion in the intergenic region of Xq27.1 [NC_000023.10:g.139493018_139502959]. The proximal breakpoint junction (BP1) comprises two joint points (indicated by asterisks). The first joint-point * connects chromosome X to chromosome 10q21.3. After the insertion of 59 bp another break occurs (second joint point **). Subsequently, the sequence of the large 404 kb fragment continues, which is located 219 bp centromeric. The distal breakpoint junction (BP2) connects the large duplicated fragment of chromosome 10q21.3 back to chromosome X. The junctions are shown at the basepair level in Supplementary Fig. 1. B Array CGH shows a 404 kb spanning region of chromosome 10q21.3 to be duplicated. C FISH signals on metaphase chromosomes showing the interchromosomal insertion. BAC probes are RP11-176H12 (10q21.3 - aqua), Vysis CEP 10 SpectrumOrange Probe (10p11.1-q11.1,- orange) and Vysis CEP X (DXZ1) SpectrumGreen Probe (Xp11.1-q211.1 - green). ISCN: ish der(X)ins(X;10)(q27.1;q21.3)(RP11-176H12+). Schematic representation of the interchromosomal insertion as circos plot retrieved from WGS data.