X-autosome and X-Y Translocations in Female Carriers: X-chromosome Inactivation Easily Detectable by 5-ethynyl-2-deoxyuridine (EdU)

Here we report one new case each of an X-autosome translocation (maternally derived), and an X-Y-chromosome translocation. Besides characterizing the involved breakpoints and/or imbalances in detail by molecular cyto-genetics, also skewed X-chromosome inactivation was determined on single cell level...

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Detalles Bibliográficos
Autores principales: Donat, M, Louis, A, Kreskowski, K, Ziegler, M, Weise, A, Schreyer, I, Liehr, T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596826/
https://www.ncbi.nlm.nih.gov/pubmed/28924545
http://dx.doi.org/10.1515/bjmg-2017-0012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596826/
https://www.ncbi.nlm.nih.gov/pubmed/28924545
http://dx.doi.org/10.1515/bjmg-2017-0012

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