From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

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Abstract
Recurrent chromosomal rearrangements include cytogenetically detectable and submicroscopic deletions, duplications, inversions and translocations. Many lead to pathological copy-number differences. New developments in genomic analysis methodologies, including PCR- and array-based platforms, coupled with the availability of a reference genomic sequence, have made possible the discovery of clinically relevant recurrent rearrangements. These recurrent rearrangements are frequently associated with segmental duplications and often produce clinically recognizable syndromes. The segmental duplications contain highly related sequences, which are predisposed to engage in non-allelic homologous recombination leading to copy-number differences. Thus, high-resolution sequence-based genome analysis tools will surpass the microscope as the diagnostic tool of choice in the identification of clinically relevant genomic disorders.