Fig. 4 | Genetics in Medicine

Fig. 4

From: Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review

Fig. 4

Model for translocations in 22q11. A: Chromosome 22 is shown as a red line with a filled circle to designate the centromere. LCR-B where most of the 22q11 translocation breakpoints localize is shown as a green box. LCRs A, C and D are shown as gray boxes. B: A magnified view of the region containing LCR-B is shown. The centromeric and telomeric ends are indicated. The palindromic sequences in LCR-B (green lines) are predicted to lead to the formation of a hairpin/cruciform structure on chromosome 22. Mismatched regions within the cruciforms may be prone to nicking by nucleases. C: Chromosome 22 with double-stranded breaks within LCR-B could recombine with another chromosome (chromosome “N”) that has similar double-stranded breaks. This would lead to a translocation between chromosome 22 and chromosome “N” leading to the formation of der22 and a der (“N”).

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