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Microduplications on human chromosomes
Štolová, Lucie ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
Microduplications are small chromosomal aberrations, for whose detection it is necessary to use molecular cytogenetic methods (FISH, CGH) instead of common cytogenetic methods. Together with microdeletions, they are most often mediated by non-allelic homologous recombination during meiosis. They occur at many places in human genome and the duplications of some chromosomal regions are responsible for syndrome emergence. Some of the genes, that are included by microduplications, are dosage sensitive and they cause the pathological phenotype. As a result of development of molecular genetic methods and their usage in studies targeted on microduplications, it comes out, that presence of microduplications on the human chromosomes was undervalued, especially because of their minor clinical significance compared to microdeletions.
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