Article
Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia - 1 Mar 2022
Vrtel Petr, Vrtel Radek, Klaskova Eva, Vrbicka Dita, Adamova Katerina, Pavlicek Jan, Hana Vaclav, Hana Vaclav, Soucek Ondrej, Stara Veronika, Lebl Jan, Snajdrova Marta, Zapletalova Jirina, Furst Tomas, Kapralova Sabina, Tauber Zdenek, Krejcirikova Eva, Routilova Marketa, Stellmachova Julia, Vodicka Radek, Prochazka Martin
Abstract excerpt
AIMS: Turner syndrome is the only chromosome monosomy that is postnatally compatible with life. The reported incidence of TS is 1 in 2500 liveborn girls. The phenotype of these girls is highly variable, with cardiac abnormalities being life-threatening defects. The aim of the study was to reveal the possible influence of the parental origin of the X chromosome in these patients on a selected phenotype that is...
Topics
- Haplotypes
- Heart Defects, Congenital
- Humans
- Phenotype
- Turner Syndrome
- X Chromosome