Conclusion
Altogether, we have illustrated the importance of molecular
characterization of DMD duplications in the clinical diagnosis of
asymptomatic and young individuals. While duplications may escape finer
characterizations due to current technical limitations, establishing
their correct sizes and orientation is paramount to delivering an
accurate clinical interpretation. As next generation sequencing becomes
more widely available in DMD clinical testing, further molecular
characterizations of duplication junctions in DMD can help
elucidate and predict at-risk recombination sites, and better inform our
diagnostic capabilities.