Sökning: "chromosome translocation"

Visar resultat 21 - 25 av 46 avhandlingar innehållade orden chromosome translocation.

  1. 21. 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

  3. 22. 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

  4. 23. 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

  5. 24. Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences

    Författare :Jakob Schuy; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Structural variants (SVs) within the genome, such as deletions, duplications, inversions, and translocations, are common but underappreciated causes of rare diseases. Complex genomic rearrangements involving two or more SVs in cis are incredibly challenging to detect. LÄS MER

  7. 25. Analysis of chromosomal rearrangements and gene copy number changes in breast cancer cells

    Författare :Pär Lundin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Genome changes in terms of numerical chromosomal aberrations and structural rearrangements, including deletions, amplifications and translocations, gradually accumulate in the genome during tumor development. These genomic changes are likely to play an important role in the process of tumor progression. LÄS MER