Sökning: "22 q23"

Hittade 2 avhandlingar innehållade orden 22 q23.

  1. 1. Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional delections by microarray CGH

    Författare :Isabel Tapia Paez; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Chromosome 22; t 11; 22 q23; q 11 ; inverted repeats palindromes; DiGeorge Velo-cardio-facial syndrome; array-CGH;

    Sammanfattning : Chromosome 22 is the second smallest human chromosome, composing approximately 1.5% of the genome. The short arm of this acrocentric chromosome harbors ribosomal genes and the long arm contains the protein coding genes. LÄS MER

  2. 2. Characterization of Genetic Abnormalities at Disease Progression of Chronic Myeloid Leukemia

    Författare :Aikaterini Barbouti; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; fluorescent in situ hybridization; low-copy repeats; isochromosome 17q; MSI2 HOXA9; ETV6 ABL1; BCR ABL1; chronic myeloid leukemia; blast crisis; molecular genetics; Clinical genetics; Klinisk genetik;

    Sammanfattning : Chronic myeloid leukemia (CML) is a myeloproliferative disorder associated with the translocation t(9;22)(q34;q11) and progresses from a relatively indolent chronic phase (CP) to an accelerated phase (AP) and finally to the more aggressive blast crisis (BC). The general aim of this thesis was to identify and characterize genetic abnormalities occurring at disease progression of CML using molecular cytogenetic, molecular genetic, and bioinformatic analyses. LÄS MER