Clinical genealogical and molecular genetic study of patients with mental retardation

Human genome mutation and rearrangement studies – the way to investigate monogenic and complex disease pathogenesis

“…During the project a strategy for every unique CNV confirmation, identified by array CGH screening, and their origin determination using qPCR was developed. The results of the CHERISH project in Ukraine revealed at least 18 unique novel probably pathogenic CNV's (deletions and/or duplications), that in-clude potential candidate genes associated with pathogenic phenotypes in patients [37]. It should be noted, that the identification of small-sized CNVs, containing several possible candidate genes, is a rare event, but these findings make it easy to identify the candidate genes.…”