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Our study determined the deletion breakpoints in two patients with CGS involving CYBB by array comparative genomic hybridization and the following PCR and DNA walking studies.
Indeed, four of these 6 intrachromosomal breakpoints coincided with breakpoints in two or more additional species.
The location of the amplification breakpoints in two identical IS gene copies (insH) suggests homologous recombination to be the main duplication mechanism (e.g., Roth et al. 1996; Lovett 2004; Hastings et al. 2009).
After identification of the deletion breakpoints in two patients (XPV91 and XPV17), we screened the following patients for this deletion by PCR using primers POLHdelF and POLHdelR showed in Table 3.
Of the 946 novel rare ASD CNVs, 57 CNVs are reported in Table 4 that correspond to overlapping CNVs in two or more unrelated ASD cases (32 cases at 14 loci), recurrent CNVs (i.e., same breakpoints) in two or more unrelated ASD cases (24 cases at 11 loci), or are a de novo event [1 case (Table 4)].
These 519 breakpoints occurred in 410 genomic regions, 324 of which contained a breakpoint observed in only one species (as compared to human), whereas 63 genomic regions contained breakpoints in two species, and 23 genomic regions contained breakpoints in three species.
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We investigated the mechanisms by which region B had integrated into the genome, by analyzing the nucleotide sequences surrounding the insertion breakpoints in six different chromosomes (Figure 5).
In 11 junctions, repeats were present at both breakpoints; in nine junctions, at one breakpoint; in three junctions, no repeats were involved.
We demonstrated the efficacy of PacBio-LITS for studying breakpoints in three PTLS samples and identified microhomologies present at the junctions in all three.
A combination of array CGH and PCR was utilized to map the putative breakpoints in five of the six probands (Fig. 2).
Using multiplex-fluorescence in situ hybridization (M-FISH) and oligo array-based comparative hybridization (array-CGH), we identified aberrations and breakpoints in six ESCC cell lines.
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