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  Indian J Med Microbiol
 

Figure 3: Three-way translocation of case MI4 with a karyotype of 46,XY,t(8;12;10)(q24.1;p13;q22). (a) The upper panel shows the normal chromosomes, and the lower panel shows the derivative chromosomes. Seven breakpoint junctions were detected by mate-pair genome sequencing. Bars in red, green and orange indicate chromosomal segments in chromosomes 8, 10 and 12, respectively. Each dotted line indicates the breakpoint locus on each chromosome. Bars in white represent chromosomal segments on 12p12.3. Characters in a reverse direction indicate a reverse orientation of the chromosomal segments in derivative chromosomes. Disruption of candidate genes associated with male infertility is shown above the chromosomes. (b) Sequence resolved breakpoint junction of a cryptic rearrangement der(12) reveals blunt end as the sequence characteristics. (c) The 3D genome map (http://3dgenome.fsm.northwestern.edu/) visualizing the 3D interaction and topologically associating domains. The black triangle shows a topologically associating domain disrupted by a breakpoint (shown by the vertical black line). Genes encompassed under each topologically associating domain are listed in the lower panel. EPS8: epidermal growth factor receptor pathway substrate 8; DHSs: DNase I hypersensitive sites; chr: chromosome; der: derivative chromosome.

Figure 3: Three-way translocation of case MI4 with a karyotype of 46,XY,t(8;12;10)(q24.1;p13;q22). (<b>a</b>) The upper panel shows the normal chromosomes, and the lower panel shows the derivative chromosomes. Seven breakpoint junctions were detected by mate-pair genome sequencing. Bars in red, green and orange indicate chromosomal segments in chromosomes 8, 10 and 12, respectively. Each dotted line indicates the breakpoint locus on each chromosome. Bars in white represent chromosomal segments on 12p12.3. Characters in a reverse direction indicate a reverse orientation of the chromosomal segments in derivative chromosomes. Disruption of candidate genes associated with male infertility is shown above the chromosomes. (<b>b</b>) Sequence resolved breakpoint junction of a cryptic rearrangement der(12) reveals blunt end as the sequence characteristics. (<b>c</b>) The 3D genome map (<a target=http://3dgenome.fsm.northwestern.edu/) visualizing the 3D interaction and topologically associating domains. The black triangle shows a topologically associating domain disrupted by a breakpoint (shown by the vertical black line). Genes encompassed under each topologically associating domain are listed in the lower panel. EPS8: epidermal growth factor receptor pathway substrate 8; DHSs: DNase I hypersensitive sites; chr: chromosome; der: derivative chromosome.">