National Repository of Grey Literature 25 records found  1 - 10nextend  jump to record: Search took 0.00 seconds. 
Molecular-cytogenetic diagnostics of marker chromosomes
Tesner, Pavel ; Kočárek, Eduard (advisor) ; Zemanová, Zuzana (referee) ; Šubrt, Ivan (referee)
Supernumerary marker chromosomes (sSMCs) are a relatively rare cytogenetic phenomenon. Their laboratory examination is often difficult, and the clinical interpretation is even more challenging. The main reason is that most sSMC carriers have no clinical manifestations. The chromosome origin and exact range of the aberration are very important, as well as the fact that sSMCs are often found in mosaics that can strongly influence both the phenotype and the interpretation of result. Prenatal sSMC finding is one of the most challenging situations in both clinical and laboratory genetics. This work deals with the investigation process of sSMC carriers using molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH). We investigated a total of 67 families collected both prospectively and retrospectively, and we found 70 unique sSMCs in a total of 74 individuals. Six cases were familial and in three cases two sSMCs were found in one individual. According to the initial karyotype finding, the cases were divided into two groups, sSMCs supernumerary to a normal karyotype (group A) and sSMCT s supernumerary to the Turner karyotype (group B). The chromosomal origin was successfully determined in 88,6 % sSMCs. In group A the most common findings were sSMCs derived from chromosome 15,...
Molecular genetic analysis of selected cryptic rearrangements of human chromosomes
Šolc, Roman ; Hirschfeldová, Kateřina (advisor) ; Zemanová, Zuzana (referee) ; Kuglík, Petr (referee)
The presented dissertation summarizes the results of research focused on the study of cryptic rearrangements of human chromosomes. Specifically, it focuses on three core areas of research. The first area is the research of cryptic rearrangements identified as causal causes of mental retardation in patients with previously unknown aetiology. The most common are the so-called microdeletion syndromes. The large variability of the phenotype and often overlapping symptoms of microdeletion syndromes require a whole-genome approach. Within the research, 64 probands were investigated and in 10 (16%) cryptic rearrangements were found and further analyzed. The second area is the research of cryptic rearrangements associated with the pseudoautosomal region 1 (specifically with the SHOX gene region), which may be both natural components of population variability and the cause of the disease. Within the research, 98 patients with Léri-Weill dyschondrosteosis or idiopathic short stature were examined, with a causal mutation found in 68.8%, and 7.8% probands respectively. At the same time, the minor deletion (so-called L05101 deletion) was evaluated as a population polymorphism without an apparent phenotypic impact. Duplications with high pathogenic potential were identified by mean of comparative analysis of...
Unbalanced changes in cancer cells genome and its role in cancer pathogenesis
Lhotská, Halka ; Zemanová, Zuzana (advisor) ; Jarošová, Marie (referee) ; Kuglík, Petr (referee)
Malignant transformation of cell is characterized by genomic instability that involves unbalanced changes besides other things. We analyzed genomic aberrations, promoter methylation and mutations of several clinically relevant genes using I-FISH, mFISH, mBAND, CGH array, SNP array, MLPA, MS-MLPA and MS-PCR methods. We focused on two groups of patients well known for frequent appearance of unbalanced changes - patients with malignant brain tumors (gliomas) and patients with myelodyspastic syndromes (MDS). In patients with low grade glioma (WHO grade I - II), the codeletion of 1p/19q (82,6% oligodendrogliomas and oligoastrocytomas), mutation of IDH1/IDH2 genes (87% WHO grade I-II gliomas), copy neutral loss of heterozygozyty of 17p (72,2% astrocytomas) and higher presence of unbalanced aberration in astrocytomas belongs to the most frequent findings. We described yet unpublished methylation of MLH3 gene promoter in 60,9% oligodendrogliomas and in 27,3% astrocytomas. We also observed clonal evolution in patients with recurrent tumors. We studied secondary rearrangements of deleted chromosome 5 in patients with MDS and complex karyotype and we described its most recurrent translocation partners and breakpoints. We observed chromothripsis in 49% of these patients and it was frequently associated with...
Chromosomal aberrations in childhood acute leukemia.
Sládková, Lucie ; Zemanová, Zuzana (advisor) ; Šárová, Iveta (referee)
1 Abstract Leukemias are the most common cancer diseases in childhood. The majority of cases represent acute leukemias, the most common of which is acute lymphoblastic leukemia (ALL), the second most frequent subtype is acute myeloid leukemia (AML). One of the basic laboratory examinations at the time of diagnosis is the cytogenetic analysis of the karyotype of leukemic cells in which we are looking for the recurrent chromosomal aberrations. These changes in the structure or number of the chromosomes can be found in up to 90 % of patients and the exact prognostic significance is known for most of them. In ALL, the findings of high hyperdiploidy (>50 chromosomes) and translocation t(12;21)(p13;q22) are considered the most significant prognostic factor associated with good prognosis and translocations involving the KMT2A gene in the 11q23 region are associated with poor prognosis. In AML, the most frequent aberrations are t(8;21)(q22;q22), t(15;17)(q24;q21) and inv(16)(p13;q22) which are considered indicator of good prognosis. An important unfavourable prognostic finding in AML are the KMT2A gene rearrangements, the most common of which is the translocation t(9;11)(q23;p13.1). Nowadays, there are many ways to detect chromosomal aberrations in leukemic cells. G-banding is the most common method of classical...
Molecular cytogenetic analysis of glial cells and its contribution to the classification of brain tumors.
Šediváková, Kristýna ; Zemanová, Zuzana (advisor) ; Král, Jiří (referee)
Brain gliomas represent a heterogeneous group of tumors of various histological subtypes which differ according to their response to treatment and prognosis. Tumors created from astrocytes and oligodendrocytes occur most often. Histological classification of gliomas is often subjective, as well as their treatment today is still problematic. The aim of this diploma thesis was to carry out a detailed molecular cytogenetic analysis of the genome of tumor cells in patients with histologically confirmed brain gliomas of different subtypes and stages of malignancy, look for recurrent aberration-specific subtypes and assess their potential role in the development and progression of cancer. To observation specific frequency known aberrations in different subtypes of brain tumors, we used the method of interphase FISH (I-FISH) with a panel of specific locus and / or centromeric DNA probes. The whole genome analysis and detection of cryptic unbalanced changes in the genome of tumor cells, we used the method of SNP array. Combining methods I- FISH and SNP array was detected not only the known chromosomal changes that are typical of the different subtypes of tumors, but also new or uncommon recurrent aberrations. In patients with low-grade gliomas are the most commonly observed acquired UPD (aUPD) on the short...
Application of cytogenetic and molecular cytogenetic methods in prenatal diagnosis
Rašpličková, Tereza ; Novotná, Drahuše (advisor) ; Zemanová, Zuzana (referee)
Foetal anomalies found on ultrasound increase the probability of occurrence of chromosomal abnormalities. They cause about one quarter of all abortions and stillbirths and many of inborn defects in newborns. Karyotype analysis is number one method in prenatal diagnosis whereas array CGH is often used as a verification and supplemental method. The aim of this work was to prove that array CGH gives additional chromosomal findings to karyotypes and could substitute conventional karyotyping as a primary examination method in foetuses with ultrasound findings. We examined 45 prenatal samples using both methods. These samples were referred for invasive examination because of abnormal ultrasound findings. Karyotype analyses found two abnormalities in two (4,4 %) patients and array CGH identified aberrations in five (11,1 %) foetuses whereas both anomalies detected by karyotypes were discovered by array CGH too. This means that array CGH identified about 6,7 % more aberrations than karyotype. Our results correspond with scientific articles which refer that array CGH should replace karyotype not only in postnatal examinations but even in prenatal diagnosis. Keywords: chromosomal aberrations, array CGH, karyotype, prenatal diagnosis, ultrasound
The role of molecular genetic and cytogenetic analyses in the diagnosis and prediction of treatment response in patients with non-Hodgkin lymphomas
Berková, Adéla ; Zemanová, Zuzana (advisor) ; Goetz, Petr (referee) ; Smolej, Lukáš (referee)
Malignant lymphoproliferative disorders include highly heterogeneous entities, i.e. lymphomas (Non-Hodgkin - NHL, as well Hodgkin's lymphoma), lymphoid leukemias, multiple myeloma and others. As currently many chromosomal aberrations with diagnostic and prognostic significance are known, molecular cytogenetic analyses of tumor cell genome has become a substantial examination also in lymphoproliferative disorders. This thesis focuses primarily on chronic lymphocytic leukemia (CLL), which is one of the mature B-cell neoplasms and represents the most common type of leukemia. We analyzed four most frequently found aberrations (13q14 deletion, ATM and TP53 gene deletion, and trisomy 12) by fluorescence in situ hybridization (FISH) and also IgH gene aberrations in some patients. We compared the findings with other factors and clinical characteristics. This work shows that the conventional G-banding is analysis relatively little relevant. FISH was more effective in detecting aberrations in CLL. Although none of the four aforementioned changes is specific to CLL, the prognostic impact is significant, particularly that of TP53 deletion. Next, detection of some IgH gene translocations is essential in differential diagnosis of CLL and other NHL (follicular, mantle cell, diffuse large B cell, Burkitt's...
Conditional discontinuance of criminal prosecution
Zemanová, Zuzana ; Herczeg, Jiří (advisor) ; Tlapák Navrátilová, Jana (referee)
The topic of this thesis is conditional discontinuance of criminal prosecution. This institute is one of the alternative ways of handling the criminal case, which are collectively called diversions. Their theoretical basis is a concept called restorative justice. Conditional discontinuance of criminal prosecution is an institute of criminal procedure that is a significant manifestation of the subsidiarity of criminal repression. This institute represents the provision of certain privileges to the accused that lie in the fact that the criminal proceedings are not brought to its standard end in exchange for reimbursing the relationship with the victim, disturbed by the criminal offence. The thesis is divided into six chapters, which seek to render the chosen theme as well as its broader context. At thebeginning, attention is paid to the concept of restorative justice and the concept of diversions. The main part of this thesis is in the third chapter and is entirely exclusively devoted to conditional discontinuance of criminal prosecution. Author's goal is to cover all aspects of this concept and its application. The following chapter is devoted to other types of diversions. Given the limited scope for this thesis,this attention is however only marginal.. Within the penultimate chapter, the thorough...

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11 ZEMANOVÁ, Zuzana
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