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

Jan Pavlicek,Ondrej Soucek,Radek Vrtel,Eva Klaskova,Vaclav Hana,Veronika Stara,Katerina Adamova,Tomas Fürst,Vaclav Hana,Sabina Kapralova,Martin Prochazka,Marta Snajderova,Hana Tomaskova,Zbynek Tüdös,Dita Vrbicka,Petr Vrtel,Jirina Zapletalova,Zdenek Tauber,Jan Lebl

Hormone research in paediatrics（2022）

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摘要

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.

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关键词

Cytogenetics,Fluorescence in situ hybridization,Germ layers,Karyotype,Phenotype,Turner syndrome

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