Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022, 166(1):63-67 | DOI: 10.5507/bp.2020.060

Petr Vrtela, Radek Vrtela, Eva Klaskovab, Dita Vrbickaa, Katerina Adamovaa, Jan Pavlicekc, Vaclav Hanad, Vaclav Hana Jr.d, Ondrej Souceke, Veronika Staraf, Jan Leblf, Marta Snajdrovae, Jirina Zapletalovab, Tomas Furstg, Sabina Kapralovab, Zdenek Tauberh, Eva Krejcirikovaa, Marketa Routilovaa, Julia Stellmachovaa, Radek Vodickaa, Martin Prochazkaa a Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic b Department of Paediatrics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic c Department of Paediatrics and Neonatal Care, Faculty of Medicine, University of Ostrava, Ostrava, Czech Republic d 3rd Department of Medicine - Department of Endocrinology and Metabolism, 1st Faculty of Medicine, Charles University in Prague, Czech Republic e Department of Paediatrics, Motol University Hospital, Prague, Czech Republic f Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague, Czech Republic g Department of Mathematical Analysis and Applications of Mathematics, Faculty of Science, Palacky University Olomouc, Czech Republic h Department of Histology and Embryology, Palacky University Olomouc and University Hospital Olomouc, Czech Republic

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.

Keywords: Turner syndrome, karyotype, phenotype, haplotype, chromosome X origin, imprinting

Vrtel, P., Vrtel, R., Klaskova, E., Vrbicka, D., Adamova, K., Pavlicek, J., ... Prochazka, M. (2022). Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub.,166(1),63-67. doi:10.5507/bp.2020.060

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