National Repository of Grey Literature 2 records found  Search took 0.00 seconds. 
Characteristic of chromosomal changes in nephroblastomas using SNP array and MLPA
Štolová, Lucie ; Vícha, Aleš (advisor) ; Daňková, Pavlína (referee)
Nephroblastoma is the most prevalent pediatric kidney tumor, which occurs primarily in younger children with the average age at diagnosis of 42,5 months for girls and 36,5 months for boys. Even though its treatment is currently very succesful and the overall survival rate reaches over 90 %, there are still more things to be discovered and improved. An important role for the right choice of treatment plays not only the histology of tumor, but also the chromosomal changes present at tumor. Some of them (for example 1q gain, simultaneous deletion of 1p and 16q, TP53 deletion) were confirmed as negative prognostic markers because they are associated with an increased risk of relapse or with anaplastic type of nephroblastoma that is included in a high risk group. These changes are therefore used together with the tumor histology for stratification of nephroblastomas. Some of these changes were found in a heterogeneous state (only in a part of the cells) in nephroblastoma, which also complicates the treatment of the patient and which cannot be solved when only one sample is taken from the tumor. In this work we concentrated on the detection of chromosomal changes present in nephroblastomas of 44 patients and their associations with clinical data. We have proved some of the known associations (22q...
Microduplications on human chromosomes
Štolová, Lucie ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
Microduplications are small chromosomal aberrations, for whose detection it is necessary to use molecular cytogenetic methods (FISH, CGH) instead of common cytogenetic methods. Together with microdeletions, they are most often mediated by non-allelic homologous recombination during meiosis. They occur at many places in human genome and the duplications of some chromosomal regions are responsible for syndrome emergence. Some of the genes, that are included by microduplications, are dosage sensitive and they cause the pathological phenotype. As a result of development of molecular genetic methods and their usage in studies targeted on microduplications, it comes out, that presence of microduplications on the human chromosomes was undervalued, especially because of their minor clinical significance compared to microdeletions.

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