Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms

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, thy-roiditis, 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 mo-lecular 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 cor-relation was demonstrated with the parental origin of the X chromosome and the observed symptom.

Automated summary

The study aimed to investigate the influence of parental origin of the X chromosome on selected phenotype associated with Turner syndrome in patients. Results from a group of 45,X patients verified by native FISH showed no correlation between parental origin of the X chromosome and observed symptoms.