Abstract
The study of de novo balanced chromosome rearrangements associated with phenotypic alterations has provided an important tool for the understanding of pathogenic mechanisms, for they can reveal gene disruptions and their effects in patients. Because balanced rearrangements show no copy number alterations, standard array techniques are inefficient in studying these cases. For this reason, a variation of the array technique, named array painting, is required for determining the chromosome breakpoints. Using this technique, only the rearranged chromosomes, or chromosome segments including the rearranged region, are separated by microdissection, differentially labeled, and hybridized in the array CGH. The chromosome region corresponding to transition point from one hybridization fluorochrome signal to the other reveals the breakpoint. The resolution of the technique depends mainly on the array type and the density of probes as well as on the repetitiveness of the DNA sequence at the breakpoint.
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Melaragno, M.I., Moysés-Oliveira, M. (2017). Breakpoint Mapping of Balanced Chromosomal Rearrangements Using Array CGH of Microdissection-Derived FISH Probes. In: Liehr, T. (eds) Fluorescence In Situ Hybridization (FISH). Springer Protocols Handbooks. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52959-1_56
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DOI: https://doi.org/10.1007/978-3-662-52959-1_56
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