RT Journal Article
SR Electronic
A1 Vrtel, Petr
A1 Vrtel, Radek
A1 Klaskova, Eva
A1 Vrbicka, Dita
A1 Adamova, Katerina
A1 Pavlicek, Jan
A1 Hana, Vaclav
A1 Hana, Vaclav
A1 Soucek, Ondrej
A1 Stara, Veronika
A1 Lebl, Jan
A1 Snajdrova, Marta
A1 Zapletalova, Jirina
A1 Furst, Tomas
A1 Kapralova, Sabina
A1 Tauber, Zdenek
A1 Krejcirikova, Eva
A1 Routilova, Marketa
A1 Stellmachova, Julia
A1 Vodicka, Radek
A1 Prochazka, Martin
T1 Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms
JF Biomedical papers
YR 2022
VO 166
IS 1
SP 63
OP 67
DO 10.5507/bp.2020.060
UL https://biomed.papers.upol.cz/artkey/bio-202201-0009.php
AB 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 associated with Turner syndrome. Selected symptoms and parameters were: a bicuspid aortic valve, aortic coarctation, lymphoedema, pterygium colli, coeliac disease, thyroiditis, otitis media, diabetes mellitus 2, renal abnormalities, spontaneous puberty, and IVF. Methods. The X chromosome haplotype was determined for a group of 45,X patients verified by native FISH. A molecular diagnostic method based on the detection of different lengths of X chromosome-linked STR markers using the Argus X-12 QS kit was used to determine the X haplotype. Results. Our results, analysed by Fisher's exact (factorial) test, suggest independence between the maternal/paternal origin of the inherited X chromosome and the presence of the anomalies that were studied (P=1 to P=0.34). Conclusion. In the group of 45,X patients, who were precisely selected by means of the native FISH method, no correlation was demonstrated with the parental origin of the X chromosome and the observed symptom.