Search for: [Abstract = "High resolution Comparative Genomic Hybridization is one of the cytomolecular methods which can be used in detection of the small chromosomal aberrations such as microduplications or microdeletions, which can’t be analyzed by standard GTG banding procedure. The aim of this project was verification of the following hypothesis\:“There are no chromosomal aberrations in patients with mental retardation and developmental delays which can be detected by high resolution Comparative Genomic Hybridization method \(hr – CGH\).” The practical aim of this project was introduction of the hr – CGH method in routine diagnostics of menthal retardation and developmental delay in The Cytogenetics Laboratory in the Department of Medical Genetics on Jagiellonian University During the project 95 DNA samples from 95 patients with mental retardation or developmental delays were analysed. In 93 cases standard GTG kariotype was correct – any chromosomal changes wasn’t detected. In 2 patients GTG kariotype showed an extra chromosomal material on chromosome 18th pair and one chromosomal marker. All results from hr – CGH analysis were verified by QF \- PCR procedure \(in this dissertation called sQF – PCR – semiQuantitative Fluorescent Polymerase Chain Reaction\) with Sybr®Green, every time for two different\-random genes located in regions of potential changes. In 17 cases positive results including t"]
