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

Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features

J. Pavlicek, O. Soucek, R. Vrtel, E. Klaskova, V. Hana, V. Stara, K. Adamova, T. Fürst, V. Hana, S. Kapralova, M. Prochazka, M. Snajderova, H. Tomaskova, Z. Tüdös, D. Vrbicka, P. Vrtel, J. Zapletalova, Z. Tauber, J. Lebl

. 2022 ; 95 (5) : 465-475. [pub] 20220701

Language English Country Switzerland

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc22033379

BACKGROUND: In Turner syndrome (TS), fluorescent in situ hybridization (FISH) karyotyping offers an alternative to classical karyotyping. OBJECTIVE: We tested the added value of FISH karyotyping from lymphocytes (mesodermal origin), buccal cells (ectodermal origin), and a rear-tongue smear (endodermal origin) to determine the 45,X cell line fraction and its impact on patient phenotype. DESIGN AND PATIENTS: Classical karyotyping and three FISH assays were done in 153 girls and women previously diagnosed with TS in four university hospitals. The 45,X cell line fraction was determined for each method and correlated with the major phenotypic signs. RESULTS: Classical karyotyping identified 45,X/46,XX mosaicism in 77/153 subjects (50%), 45,X monosomy in 52/153 (34%), and other karyotypes in 24/153 (16%). FISH from lymphocytes verified 45,X in 47/52 original cases, whereas 4/52 had 45,X/46,XX and 1/52 45,X/47,XYY mosaicism. The 45,X cell line fraction was higher in FISH from lymphocytes compared to classical karyotyping (median 86.4% vs. 70.0%; p < 0.001), while there was no difference for FISH from buccal or rear-tongue smear cells. The mean 45,X cell line fraction was more abundant in patients with several of the characteristic phenotypic signs compared to patients without them (p < 0.01), but the predictive power was insufficient. CONCLUSION: FISH analysis confirmed the findings of classical karyotyping; only a few 45,X monosomy cases were reclassified as mosaics. The 45,X cell line fraction did not show clinically meaningful prediction of the phenotype. FISH analysis of buccal or rear-tongue epithelial cells may be a non-inferior, less invasive alternative to classical karyotyping.

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc22033379
003      
CZ-PrNML
005      
20230131151350.0
007      
ta
008      
230120s2022 sz f 000 0|eng||
009      
AR
024    7_
$a 10.1159/000525823 $2 doi
035    __
$a (PubMed)35970147
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a sz
100    1_
$a Pavlicek, Jan $u Department of Pediatrics, University Hospital Ostrava and Faculty of Medicine, Ostrava University, Ostrava, Czechia
245    10
$a Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features / $c J. Pavlicek, O. Soucek, R. Vrtel, E. Klaskova, V. Hana, V. Stara, K. Adamova, T. Fürst, V. Hana, S. Kapralova, M. Prochazka, M. Snajderova, H. Tomaskova, Z. Tüdös, D. Vrbicka, P. Vrtel, J. Zapletalova, Z. Tauber, J. Lebl
520    9_
$a BACKGROUND: In Turner syndrome (TS), fluorescent in situ hybridization (FISH) karyotyping offers an alternative to classical karyotyping. OBJECTIVE: We tested the added value of FISH karyotyping from lymphocytes (mesodermal origin), buccal cells (ectodermal origin), and a rear-tongue smear (endodermal origin) to determine the 45,X cell line fraction and its impact on patient phenotype. DESIGN AND PATIENTS: Classical karyotyping and three FISH assays were done in 153 girls and women previously diagnosed with TS in four university hospitals. The 45,X cell line fraction was determined for each method and correlated with the major phenotypic signs. RESULTS: Classical karyotyping identified 45,X/46,XX mosaicism in 77/153 subjects (50%), 45,X monosomy in 52/153 (34%), and other karyotypes in 24/153 (16%). FISH from lymphocytes verified 45,X in 47/52 original cases, whereas 4/52 had 45,X/46,XX and 1/52 45,X/47,XYY mosaicism. The 45,X cell line fraction was higher in FISH from lymphocytes compared to classical karyotyping (median 86.4% vs. 70.0%; p < 0.001), while there was no difference for FISH from buccal or rear-tongue smear cells. The mean 45,X cell line fraction was more abundant in patients with several of the characteristic phenotypic signs compared to patients without them (p < 0.01), but the predictive power was insufficient. CONCLUSION: FISH analysis confirmed the findings of classical karyotyping; only a few 45,X monosomy cases were reclassified as mosaics. The 45,X cell line fraction did not show clinically meaningful prediction of the phenotype. FISH analysis of buccal or rear-tongue epithelial cells may be a non-inferior, less invasive alternative to classical karyotyping.
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a lidé $7 D006801
650    12
$a Turnerův syndrom $x metabolismus $7 D014424
650    _2
$a hybridizace in situ fluorescenční $7 D017404
650    _2
$a ústní sliznice $7 D009061
650    _2
$a karyotypizace $7 D007621
650    _2
$a mozaicismus $7 D009030
650    _2
$a monozomie $7 D009006
650    _2
$a lymfocyty $x metabolismus $7 D008214
650    _2
$a epitelové buňky $7 D004847
655    _2
$a časopisecké články $7 D016428
700    1_
$a Soucek, Ondrej $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czechia
700    1_
$a Vrtel, Radek $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia
700    1_
$a Klaskova, Eva $u Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia
700    1_
$a Hana, Vaclav $u 3rd Department of Medicine - Department of Endocrinology and Metabolism, 1st Faculty of Medicine, Charles University in Prague, Prague, Czechia
700    1_
$a Stara, Veronika $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czechia
700    1_
$a Adamova, Katerina $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia
700    1_
$a Fürst, Tomas $u Department of Mathematical Analysis and Applications of Mathematics, Faculty of Science, Palacky University, Olomouc, Czechia
700    1_
$a Hana, Vaclav $u 3rd Department of Medicine - Department of Endocrinology and Metabolism, 1st Faculty of Medicine, Charles University in Prague, Prague, Czechia
700    1_
$a Kapralova, Sabina $u Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia
700    1_
$a Prochazka, Martin $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia
700    1_
$a Snajderova, Marta $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czechia
700    1_
$a Tomaskova, Hana $u Department of Epidemiology and Public Health, Faculty of Medicine, Ostrava, Czechia
700    1_
$a Tüdös, Zbynek $u Department of Radiology, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia
700    1_
$a Vrbicka, Dita $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia
700    1_
$a Vrtel, Petr $u Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia
700    1_
$a Zapletalova, Jirina $u Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University and University Hospital, Olomouc, Czechia
700    1_
$a Tauber, Zdenek $u Department of Histology a Embryology, Faculty of Medicine and Dentistry, Palacky University Olomouc, Olomouc, Czechia
700    1_
$a Lebl, Jan $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czechia
773    0_
$w MED00175757 $t Hormone research in paediatrics $x 1663-2826 $g Roč. 95, č. 5 (2022), s. 465-475
856    41
$u https://pubmed.ncbi.nlm.nih.gov/35970147 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20230120 $b ABA008
991    __
$a 20230131151346 $b ABA008
999    __
$a ok $b bmc $g 1891907 $s 1184714
BAS    __
$a 3
BAS    __
$a PreBMC-MEDLINE
BMC    __
$a 2022 $b 95 $c 5 $d 465-475 $e 20220701 $i 1663-2826 $m Hormone research in paediatrics $n Horm Res Paediatr $x MED00175757
LZP    __
$a Pubmed-20230120

Find record

Citation metrics

Archiving options