PT  - JOURNAL ARTICLE
AU  - Vrtel, Petr
AU  - Vrtel, Radek
AU  - Klaskova, Eva
AU  - Vrbicka, Dita
AU  - Adamova, Katerina
AU  - Pavlicek, Jan
AU  - Hana, Vaclav
AU  - Hana, Vaclav
AU  - Soucek, Ondrej
AU  - Stara, Veronika
AU  - Lebl, Jan
AU  - Snajdrova, Marta
AU  - Zapletalova, Jirina
AU  - Furst, Tomas
AU  - Kapralova, Sabina
AU  - Tauber, Zdenek
AU  - Krejcirikova, Eva
AU  - Routilova, Marketa
AU  - Stellmachova, Julia
AU  - Vodicka, Radek
AU  - Prochazka, Martin
TI  - Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms
DP  - 2022 Mar 1
TA  - Biomedical papers
PG  - 63--67
VI  - 166
IP  - 1
AID - 10.5507/bp.2020.060
IS  - 12138118
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.