Confirmation of submicroscopic chromosomal abberrations detected with genome-wide array CGH

Cytogenetic studies have demonstrated that duplications or deletions of entire chromosomes or microscopically visible aberrations are associated with specific congenital disorders. The subsequent development and application of microarray-based assays have established in large quantities of copy number variants (CNVs) as a substantial source of genetic diversity in the human genome. Moreover, some of these CNVs which are associated with birth defects, cancer, neurodevelopmental disorders at birth and neurodegenerative diseases in adulthood have been demonstrated as pathogenic CNVs. Development of array technologies covering the entire range from specific loci to genome-wide, are behind these informations. In this dissertation, submicroscopic abberrations identified with array CGH in patients with several congenital disorders were further investigated on locus-spesific level with qPCR and MLPA. Besides, this thesis briefly review the methods that are available to detect CNVs, discuss their strong and weak points, show some new developments and look ahead.