http://dspace.bsu.edu.ru/handle/123456789/41334| Title: | Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis |
| Authors: | Vorsanova, S. G. Kolotii, A. D. Kurinnaia, O. S. Kravets, V. S. Iourov, I. Y |
| Keywords: | biology genetics aneuploidy chromosome X fluorescence in situ hybridization (FISH) molecular cytogenetics phenotype somatic mosaicism Turner’s syndrome |
| Issue Date: | 2021 |
| Citation: | Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis / S.G. Vorsanova [et al.] // Molecular Cytogenetics. - 2021. - Vol.14.-Art. 9. - Doi: https://doi.org/10.1186/s13039-021-00529-2. - URL: https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-021-00529-2 |
| Abstract: | Turner’s syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner’s syndrome mosaicism (TSM) remains to be fully described. This is especially true for the analysis of TSM in clinical cohorts (e.g. cohorts of individuals with neurodevelopmental disorders). Here, we present the results of studying TSM in a large cohort of girls with neurodevelopmental disorders and a hypothesis highlighting the diagnostic and prognostic value |
| URI: | http://dspace.bsu.edu.ru/handle/123456789/41334 |
| Appears in Collections: | Статьи из периодических изданий и сборников (на иностранных языках) = Articles from periodicals and collections (in foreign languages) |
| File | Description | Size | Format | |
|---|---|---|---|---|
| Yourov_Turner’s syndrome.pdf | 2.17 MB | Adobe PDF | View/Open |
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