James Lupski and colleagues report a high-resolution analysis of 67 breakpoint junctions in 31 unrelated individuals with MECP2 duplication syndrome. They find that ~52% of genomic rearrangements in these individuals represent complex events in which the sequences flanking the breakpoints acquire additional changes, including small insertions, deletions and point mutations, likely resulting from error-prone DNA polymerase activity.
- Claudia M B Carvalho
- Davut Pehlivan
- James R Lupski