Sökning: "chromosome rearrangements"

Visar resultat 21 - 25 av 54 avhandlingar innehållade orden chromosome rearrangements.

  1. 21. Characterisation of chromosomal aberrations in childhood leukaemia

    Författare :Ann Nordgren; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Chromosome aberrations; SKY; interphase-FISH; Childhood ALL;

    Sammanfattning : Acute lymphoblastic leukaemia (ALL) is the most common malignancy in childhood, accounting for approximately 25% of all paediatric malignancies. Based on clinical risk criteria and modem laboratory investigations including immunophenotyping, cytogenetics, and molecular genetics, patients can be divided into prognostic groups and assigned to risk- adjusted treatment protocols. LÄS MER

  3. 22. Molecular studies of acute myeloid leukemia and the telomerase reverse transcriptase gene

    Författare :Charlotta Lindvall; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Aacute myeloid leukaemia; telomerase hTERT; cancer cytogenetics; spectral karyotyping; gene expression profiling;

    Sammanfattning : Multiple chromosome rearrangements (MCRs) are detected in approximately 10% of patients with acute myeloid leukemia (AML), and are associated with an adverse prognosis. Comprehensive analysis of the chromosome rearrangements in these complex karyotypes has previously been hampered by the limitations of conventional cytogenetic techniques such as G-banding. LÄS MER

  4. 23. Gene dose imbalances in children with mental retardation

    Författare :Jacqueline Schoumans; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Mental retardation; MCA MR syndromes; cromosome abnormalities; subtelomeric FISH; comparative genomichybridization; array-CGH;

    Sammanfattning : Submicroscopic chromosome aberrations can cause mental retardation (MR), congenital malformations and miscarriage. It is difficult to estimate the contribution of cytogenetic abnormalities to MR because of relatively low detection sensitivity of conventional cytogenetic methods used in the diagnostic setting. LÄS MER

  5. 24. Structural chromosomal aberrations and neuropsychiatric disorders

    Författare :Tonnie Johannesson; Göteborgs universitet; []
    Nyckelord :Autism spectrum disorders; chromosomes; FISH; balanced; translocations;

    Sammanfattning : Infantile autism (IA) is a severe neurodevelopment disorder with a complex genetic predisposition. The underlying causes of autism are still not understood. LÄS MER

  7. 25. CYTOGENETIC AND MOLECULAR GENETIC CHARACTERIZATION OF LIPOMAS

    Författare :Hammurabi Bartuma; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; soft tissue tumors; adipocytic tumors; conventional lipomas; spindle cell lipoma; HMGA2; cytogenetic; molecular genetic; SNP array; GGE;

    Sammanfattning : The focus of this thesis was to study cytogenetic and molecular genetic aberrations in lipomas. For this purpose, chromosome banding analysis, fluorescence in situ hybridization (FISH), as well as high resolution single nucleotide polymorphism (SNP)–arrays were used to identify recurrent chromosomal aberrations in lipomas. LÄS MER