Search for dissertations about: "trisomy"

Showing result 21 - 25 of 25 swedish dissertations containing the word trisomy.

  2. 21. Prenatal diagnosis of structural malformations and chromosome anomalies : Detection, influence of Body Mass Index and ways to improve screening

    Author : Eric Hildebrand; Marie Blomberg; Tomas Gottvall; Jan Brynhildsen; Ove Axelsson; Linköpings universitet; []
    Keywords : ;

    Abstract : Introduction: Prenatal diagnosis of structural malformations and chromosome anomalies is possible in the presence of an effective screening with ultrasound during pregnancy. The continuous evolution of the ultrasound equipment facilitates the examination. READ MORE

  4. 22. Proteins influencing the integrity of meiotic chromosome dynamics

    Author : Mary-Rose Hoja; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Aneuploidy (trisomy or monosomy) is the leading genetic cause of human pregnancy loss and results from aberrant meiotic chromosome segregation. Accurate segregation of meiotic chromosomes depends on extensive pairing (called synapsis) and recombination between them. READ MORE

  5. 23. Cytogenetic abnormalities in Acute Myeloid Leukemia in Sweden. A population based study

    Author : Vladimir Lazarevic; Stamcellscentrum (SCC); []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; AML; karyotype; population-based studies; prognosis; chromosomes; hyperdiploidy;

    Abstract : The impact of cytogenetic findings in AML was analyzed in the large population-based Swedish AML registry. Karyotypic patterns differed by age: t(8;21), inv(16) and t(11q23) were more common in younger patients, whereas loss of 5q, 7q and 17p, monosomal karyotype (MK) and complex karyotype (CK) were more common in older patients. READ MORE

  6. 24. Aspects of Hirschsprung disease

    Author : Anna Löf Granström; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Hirschsprung disease (HSCR) is a congenital defect of the enteric nervous system characterized by a lack of enteric neurons in the distal hindgut. Motility disturbances in the distal colon usually lead to neonatal intestinal obstruction. The birth prevalence of HSCR has been assessed to 1 in 5,000 live births. READ MORE

  7. 25. New molecular tools for prenatal diagnosis

    Author : Ellika Sahlin; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Prenatal diagnosis enables identification of severe disease in the fetus, and allows for planning and management of future pregnancies if an underlying genetic mechanism is identified. The studies included in this thesis have taken advantage of the dramatic progress in medical genetics, in order to develop and evaluate new procedures to diagnose genetic disorders in fetal life. READ MORE