Chromosomal structural rearrangements: detection and elucidation of mechanisms using cytogenomic technologies

By identifying the imbalance and the genomic architecture associated with the imbalance, the mechanism leading to an imbalance can often be identified. Understanding the mechanism leads to more accurate recurrence risk assessment. Common mechanisms that lead to imbalances are discussed. A combination of technologies is required for the identification of the imbalance and characterization of the genomic architecture. As our technologies improve and increase in resolution, it is likely that our understanding of genomic rearrangement mechanisms will also change; we will continue to be impressed by the dynamic nature of chromosome structure and its relationship to human disease.