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  Indian J Med Microbiol
 

Figure 2: Three-way translocation of case MI3 with a karyotype of 46,XY,t(4;11;6)(q22;q21;q16). The upper panel shows the normal chromosomes, and the lower panel shows the derivative chromosomes. Seven rearrangements were detected by mate-pair genome sequencing, revealing more complex rearrangements than a three-way translocation. Bars in red, green, and orange indicate chromosomal segments on chromosomes 4, 6, and 11, respectively. Segments originating from chromosome 4 were found on both der(6) and der(11). Each dotted line indicates the breakpoint on each chromosome. Bars in white represent cryptic chromosomal segments on 4q21.21q21.23, while boxes in light green indicate a chromosomal segment of 6q14.2q16.2. Segments that have an inverse genomic orientation are shown by reversed numbers. Disruption of candidate genes associated with male infertility is shown above the chromosomes. CFAP299: cilia and flagella associated protein 299; chr: chromosome; der: derivative chromosome.

Figure 2: Three-way translocation of case MI3 with a karyotype of 46,XY,t(4;11;6)(q22;q21;q16). The upper panel shows the normal chromosomes, and the lower panel shows the derivative chromosomes. Seven rearrangements were detected by mate-pair genome sequencing, revealing more complex rearrangements than a three-way translocation. Bars in red, green, and orange indicate chromosomal segments on chromosomes 4, 6, and 11, respectively. Segments originating from chromosome 4 were found on both der(6) and der(11). Each dotted line indicates the breakpoint on each chromosome. Bars in white represent cryptic chromosomal segments on 4q21.21q21.23, while boxes in light green indicate a chromosomal segment of 6q14.2q16.2. Segments that have an inverse genomic orientation are shown by reversed numbers. Disruption of candidate genes associated with male infertility is shown above the chromosomes. <i>CFAP299</i>: cilia and flagella associated protein 299; chr: chromosome; der: derivative chromosome.