Sökning: "Turner karyotype"

Visar resultat 1 - 5 av 6 avhandlingar innehållade orden Turner karyotype.

  1. 1. Turner karyotype and childbirth

    Författare :Anna Hagman; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Turner syndrome; obstetric and neonatal outcome; Turner karyotype; pregnancy; maternal characteristics; neonatal chracterisitics;

    Sammanfattning : Turner karyotype and childbirth Anna Hagman, Department of Obstetrics and Gynaecology, Institute of Clinical Sciences, the Sahlgrenska Academy, University of Gothenburg, Sweden, 2013. anna.c.hagman@vgregion. LÄS MER

  2. 2. Dentofacial morphology in Turner Syndrome karyotypes

    Författare :Sara Rizell; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; orthodontics; Turner syndrome; genetics; karyotype; geno-phanotype correlation; anthropometrics; craniofacial morphology; dental arch; dental crown width; enamel; primary teeth; elemental composition;

    Sammanfattning : The overall aim of this thesis was to study dentofacial morphology in Turner syndrome (TS) versus controls and the influence hereupon from karyotype. One hundred thirty two TS females (5-66 years of age), from Göteborg, Uppsala and Umeå were participating. LÄS MER

  3. 3. Turner syndrome. Relation between genotype and phenotype and long-term follow-up studies

    Författare :Mohamed Mostafa El-Mansoury; Göteborgs universitet; []
    Nyckelord :Turner syndrome; chromosome; cardiovascular disease; body balance; fracture; hearing; hypothyroidism; liver;

    Sammanfattning : Turner syndrome (TS) is a chromosomal disorder with a prevalence of approximately 1/2 500 live female births. There is complete or partial absence of one of the two sex chromosomes, resulting in a genetic constellation of 45,X monosomy or 45,X/46,XX mosaic, respectively. LÄS MER

  4. 4. Genetic, neurodevelopmental and psychiatric studies of Turner syndrome

    Författare :Hanna Björlin Avdic; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Turner Syndrome (TS) is a genetic condition characterized by the partial or complete loss of one sex chromosome. Associations with neurodevelopmental and psychiatric disorders has been suggested in TS, but findings are inconsistent. LÄS MER

  5. 5. Metacarpophalangeal pattern profile analysis in hypochondroplasia, dyschondrosteosis and Turner syndrome

    Författare :Evaldas Laurencikas; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Metacarpophalangeal pattern profile MCPP ; hypochondroplasia; Leri-Weill dyschondrosteosis; Turner syndrome; Discriminant analysis; short stature.;

    Sammanfattning : The skeletal system, including the hand skeleton, is affected by a large number of skeletal dysplasias. Clinical and radiological abnormalities of the skeletal system in hypochondroplasia (HCP), dyschondrosteosis (LWD) and Turner syndrome (TS) may be rather subtle and difficult to recognize, particularly in young individuals, which can lead to an unnecessary delay of the diagnosis. LÄS MER