Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F71009396%3A_____%2F22%3AN0000013" target="_blank" >RIV/71009396:_____/22:N0000013 - isvavai.cz</a>
Alternative codes found
RIV/00843989:_____/22:E0109948 RIV/61989592:15310/22:73614216 RIV/00098892:_____/22:10157146 RIV/00216208:11110/22:10450854 and 4 more
Result on the web
<a href="https://www.karger.com/Article/Abstract/525823" target="_blank" >https://www.karger.com/Article/Abstract/525823</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1159/000525823" target="_blank" >10.1159/000525823</a>
Alternative languages
Result language
angličtina
Original language name
Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features
Original language description
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.
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
30202 - Endocrinology and metabolism (including diabetes, hormones)
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
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
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
Hormone Research in Pediatrics
ISSN
1663-2818
e-ISSN
1663-2826
Volume of the periodical
95
Issue of the periodical within the volume
5
Country of publishing house
CH - SWITZERLAND
Number of pages
11
Pages from-to
465-475
UT code for WoS article
000886610700009
EID of the result in the Scopus database
2-s2.0-85142400983