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Figure 2 | Molecular Cytogenetics

Figure 2

From: A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

Figure 2

Location of FISH probes used in the study, results of FISH experiments, and structure of the chr21 with inv(21)(q21.1q22.11) and its haplotypes. The numbering of FISH probes corresponds to Table 1. The colours of the dots used to mark the positions of the FISH probes reflect the colours of fluorochromes used. Vertical double lines mark the regions of the duplications. The hybridisation of various combinations of FISH probes on the normal (left) and inverted (right) chr21 is shown. The bottom chromosome ideogram shows the inverted chromosome (with the inversion boxed in red and marked with a red arrow) including the new positions of the FISH probes. The schematics at the bottom of the figure shows haplotype divergence with genotypes discordant among Families A-B, A-C and B-C indicated in red, blue and green, respectively, and the duplications flanking the insertion in yellow. Note the absolute haplotype identity (no discordant genotypes) within the inversion.

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