The thesis focuses mostly on discovering unrevealed causes of pathologic phenotype symptoms of patients with whom no pathologic changes in genetic material were detected by common cytogenetic methods. All samples were examined by a chip method array-CGH (comparative genomic hybridization) which detects aberrant spots without any knowledge of where they are located in the genome. In some cases the method was used to verify or specify the finding that was diagnosed during previous genetic testing. The patients were examined by this method in an accredited genetics laboratory GENvia, s.r.o. in 2013 and partly also in 2014. The theoretical part of the thesis focuses on the role of the common cytogenetic method and its diagnostic use. I also describe the basic principle of the array-CGH method and its use in prenatal and postnatal diagnostics. The practical part of the thesis describes results of all examined patients. But mostly it focuses on pediatric patients where the diagnosis correlates with their clinical symptoms. All the results were verified by another method used for the particular diagnosis. Some results were verified by FISH (fluorescence in situ hybridization) method, other ways of the results verification are described as well. In total 8 pathologic findings were discovered in patients up to 12...
| Identifer | oai:union.ndltd.org:nusl.cz/oai:invenio.nusl.cz:336905 |
| Date | January 2014 |
| Creators | Šlégrová, Sandra |
| Contributors | Krkavcová, Miroslava, Panczak, Aleš |
| Source Sets | Czech ETDs |
| Language | Czech |
| Detected Language | English |
| Type | info:eu-repo/semantics/masterThesis |
| Rights | info:eu-repo/semantics/restrictedAccess |
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