Sökning: "Spectral karyotyping"

Visar resultat 6 - 8 av 8 avhandlingar innehållade orden Spectral karyotyping.

  1. 6. 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

  3. 7. Molecular genetic aspects of renal cell carcinoma development

    Författare :Andrei Alimov; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Kidney tumor; RCC; LOH; CGH; SKY; PTEN; chromosome 3p; chromosome 10q; chromosome 14q;

    Sammanfattning : Renal cell carcinoma (RCC) is the most common tumor of the renal parenchyma. The aim of this study was to further characterize known as well as new genetic abnormalities in a clinical material of RCC, as well as in established cell lines to gain more information about etiological and progression factors. LÄS MER

  4. 8. Molecular cytogenetic investigations of chromosomal abnormalities in prostate and urinary bladder cancers

    Författare :Yi Pan; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :prostate cancer; bladder cancer; FISH; SKY;

    Sammanfattning : Tumorigenesis is suggested to be caused by base pair mutations and chromosomal abnormalities leading to inactivation of tumor suppressor genes an activation of oncogenes. However, still it is not clear for the vast majority of these changes how they contribute to the tumorigenesis of the prostate and bladder cancers. LÄS MER