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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

Fig. 2

The chromosome breakpoints and disrupted genes within the insertional translocation t(1:14). a and b The disrupted genes at the breakpoints are indicated by red arrows. The breakpoint on chromosome 1q44 disrupts the EFCAB2 gene in intron 1, and the breakpoint on chromosome 14 disrupts the PRKCH gene in intron 12. c-e The breakpoints mapped at the base-pair level by Sanger sequencing. Translocation junction sequences (middle line) and matching reference sequences (top and bottom lines) are shown with different colours depending on the involved chromosome region (1q43-red, 1q44-blue, 14q23-green). The microhomology observed at the translocation breakpoint sites are indicated in purple letters in bold, deleted sequences are underlined, and duplicate sequences are shown in lower-case letters in bold. Der14(L) indicates the breakpoint sequence near the centromere, and der14(R) indicates the breakpoint sequence near telomere

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