Detail
Article
Online article
FT
Medvik - BMC
  • Something wrong with this record ?

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

P. Vrtel, R. Vrtel, E. Klaskova, D. Vrbicka, K. Adamova, J. Pavlicek, V. Hana, V. Hana, O. Soucek, V. Stara, J. Lebl, M. Snajdrova, J. Zapletalova, T. Furst, S. Kapralova, Z. Tauber, E. Krejcirikova, M. Routilova, J. Stellmachova, R. Vodicka, M. Prochazka

. 2022 ; 166 (1) : 63-67. [pub] 20210112

Language English Country Czech Republic

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc22009429

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.

References provided by Crossref.org

Bibliography, etc.

Literatura

000      
00000naa a2200000 a 4500
001      
bmc22009429
003      
CZ-PrNML
005      
20220721082340.0
007      
ta
008      
220419s2022 xr f 000 0|eng||
009      
AR
024    7_
$a 10.5507/bp.2020.060 $2 doi
035    __
$a (PubMed)33463629
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xr
100    1_
$a Vrtěl, Petr $7 xx0235736 $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
245    10
$a Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms / $c P. Vrtel, R. Vrtel, E. Klaskova, D. Vrbicka, K. Adamova, J. Pavlicek, V. Hana, V. Hana, O. Soucek, V. Stara, J. Lebl, M. Snajdrova, J. Zapletalova, T. Furst, S. Kapralova, Z. Tauber, E. Krejcirikova, M. Routilova, J. Stellmachova, R. Vodicka, M. Prochazka
504    __
$a Literatura
520    9_
$a 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.
650    _2
$a haplotypy $7 D006239
650    12
$a vrozené srdeční vady $7 D006330
650    _2
$a lidé $7 D006801
650    _2
$a fenotyp $7 D010641
650    12
$a Turnerův syndrom $x genetika $7 D014424
650    _2
$a chromozom X $7 D014960
655    _2
$a časopisecké články $7 D016428
700    1_
$a Vrtěl, Radek $7 xx0060360 $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Klásková, Eva $7 xx0081724 $u Department of Paediatrics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Vrbická, Dita $7 stk2008428566 $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Adamová, Kateřina, $d 1964- $7 xx0046977 $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Pavlíček, Jan $7 xx0064568 $u Department of Paediatrics and Neonatal Care, Faculty of Medicine, University of Ostrava, Ostrava, Czech Republic
700    1_
$a Hána, Václav, $d 1956- $7 xx0018430 $u 3rd Department of Medicine - Department of Endocrinology and Metabolism, 1st Faculty of Medicine, Charles University in Prague, Czech Republic
700    1_
$a Hána, Václav, $7 xx0208325 $u 3rd Department of Medicine - Department of Endocrinology and Metabolism, 1st Faculty of Medicine, Charles University in Prague, Czech Republic
700    1_
$a Souček, Ondřej $7 xx0227766 $u Department of Paediatrics, Motol University Hospital, Prague, Czech Republic
700    1_
$a Stará, Veronika $7 xx0141582 $u Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague, Czech Republic
700    1_
$a Lebl, Jan, $d 1955- $7 jn19990010093 $u Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague, Czech Republic
700    1_
$a Šnajdrová, Marta $7 xx0106889 $u Department of Paediatrics, Motol University Hospital, Prague, Czech Republic
700    1_
$a Zapletalová, Jiřina, $d 1954- $7 jn20000620426 $u Department of Paediatrics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Fürst, Tomáš, $d 1978- $7 mzk2005286891 $u Department of Mathematical Analysis and Applications of Mathematics, Faculty of Science, Palacky University Olomouc, Czech Republic
700    1_
$a Kaprálová, Sabina $7 xx0229388 $u Department of Paediatrics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Tauber, Zdeněk $7 xx0228394 $u Department of Histology and Embryology, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Krejčiříková, Eva $7 xx0107105 $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Řoutilová, Markéta $7 xx0274856 $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Štellmachová, Júlia $7 xx0235700 $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Vodička, Radek $7 xx0019317 $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
700    1_
$a Procházka, Martin, $d 1955- $7 xx0058277 $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
773    0_
$w MED00012606 $t Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia $x 1213-8118 $g Roč. 166, č. 1 (2022), s. 63-67
856    41
$u https://pubmed.ncbi.nlm.nih.gov/33463629 $y Pubmed
910    __
$a ABA008 $b A 1502 $c 958 $y p $z 0
990    __
$a 20220419 $b ABA008
991    __
$a 20220721082334 $b ABA008
999    __
$a ok $b bmc $g 1815560 $s 1160627
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2022 $b 166 $c 1 $d 63-67 $e 20210112 $i 1213-8118 $m Biomedical papers of the Medical Faculty of the University Palacký, Olomouc Czech Republic $n Biomed. Pap. Fac. Med. Palacký Univ. Olomouc Czech Repub. (Print) $x MED00012606
LZP    __
$b NLK118 $a Pubmed-20220419

Find record

Citation metrics

Archiving options