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Pathological findings in pediatric patients detected by array-CGH
Šlégrová, Sandra ; Krkavcová, Miroslava (advisor) ; Panczak, Aleš (referee)
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...
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Pathological findings in pediatric patients detected by array-CGH
Šlégrová, Sandra ; Krkavcová, Miroslava (advisor) ; Panczak, Aleš (referee)
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...
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Comparison of the occurrence of inversion at the 9th chromosome in infertile and sterile patients with literature dates
Šlégrová, Sandra ; Krkavcová, Miroslava (advisor) ; Šípek, Antonín (referee)
The pericentric inversion of the chromosome 9 [inv (9)] is the most common small-scale inversions in the human chromosomes. Some publications consider it as a variation of the human karyotype, which has no clinical manifestations. However there are mentioned the studies in this thesis that reports the inversion on the chromosome 9 in connection with the various pathological conditions, such as sterility, infertility, or some congenital anomalies. However, most attention is paid to the patients who were evaluated for the indication due to the failure of reproduction (sterility or infertility). The research was conducted in the accredited genetic laboratory GENvia s.r.o., where the data of the period 2004-2011 are collected. During this period a total of 5195 patients of variety indication reasons were examined. Totally 84 cases of them were found with inversion of the chromosome 9 with an incidence of 1.62 % laboratory. The indication diagnoses are divided into six created groups because of their quantity. One of them is called sterility/infertility. There were found 23 cases with inversion in the 9th chromosome in this group. It makes 27.38 % totally of the amount found in the chromosome inversions 9th. The occurrence of this inversion was also noticed in other indication groups: the congenital...
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