Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15310%2F22%3A73605238" target="_blank" >RIV/61989592:15310/22:73605238 - isvavai.cz</a>
Alternative codes found
RIV/61988987:17110/21:A2202DFJ RIV/00216208:11110/22:10420918 RIV/00216208:11130/22:10420918 RIV/00098892:_____/22:10157145 and 2 more
Result on the web
<a href="https://biomed.papers.upol.cz/getrevsrc.php?identification=public&mag=bio&raid=2681&type=fin&ver=2" target="_blank" >https://biomed.papers.upol.cz/getrevsrc.php?identification=public&mag=bio&raid=2681&type=fin&ver=2</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.5507/bp.2020.060" target="_blank" >10.5507/bp.2020.060</a>
Alternative languages
Result language
angličtina
Original language name
Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
<a href="/en/project/NV17-29111A" target="_blank" >NV17-29111A: A key role of the karyotype in risk stratification for the premature cardiovascular morbidity and mortality in females with Turner syndrome</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
BIOMEDICAL PAPERS-OLOMOUC
ISSN
1213-8118
e-ISSN
1804-7521
Volume of the periodical
165
Issue of the periodical within the volume
10
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
5
Pages from-to
63-67
UT code for WoS article
000731340700001
EID of the result in the Scopus database
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