http://dspace.bsu.edu.ru/handle/123456789/47938| Title: | Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis |
| Authors: | Vorsanova, S. G. Demidova, I. A. Kolotii, A. D. Kurinnaia, O. S. Iourov, I. Y. |
| Keywords: | medicine medical genetics aneuploidy chromosome X fluorescence in situ hybridization (FISH) Klinefelter syndrome molecular cytogenetics phenotype somatic mosaicism |
| Issue Date: | 2022 |
| Citation: | Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis / S.G. Vorsanova [et al.] // Molecular Cytogenetics. - 2022. - Vol.15.-Art. 8. - Doi: https://doi.org/10.1186/s13039-022-00588-z.- URL: https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-022-00588-z |
| Abstract: | Our study provides data on the occurrence of KSM in neurodevelopmental disorders among males. Accordingly, it is proposed that KSM may be a possible element of pathogenic cascades in psychiatric and neurodegenerative diseases. These observations allowed us to extend the hypothesis proposed in our previous report on the contribution of somatic gonosomal mosaicism (Turner’s syndrome mosaicism) to the etiology of neurodevelopmental disorders |
| URI: | http://dspace.bsu.edu.ru/handle/123456789/47938 |
| 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_Klinefelter.pdf | 1.44 MB | Adobe PDF | View/Open |
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