Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype

Numeric sex chromosome abnormalities are commonly associated with an increased cancer risk. Here, we report a 14-year-old boy with a rare mosaic 45, X/48, XYYY karyotype presenting with subtle dysmorphic features and relative height deficiency, requiring growth hormone therapy. As only 12 postnatal...

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Detalles Bibliográficos
Autores principales: Koczkowska, Magdalena, Jąkalski, Marcin, Birkholz-Walerzak, Dorota, Kostecka, Anna, Iliszko, Mariola, Wójcik, Magdalena, Lewandowski, Krzysztof, Milska-Musa, Katarzyna, Buckley, Patrick G., Drężek, Kinga, Juhas, Ulana, Kuziemska, Ewa, Maciejewska, Agnieszka, Pawłowski, Ryszard, Wasąg, Bartosz, Filipowicz, Natalia, Chojnowska, Katarzyna, Ławrynowicz, Urszula, Dumanski, Jan P., Lipska-Ziętkiewicz, Beata S., Mieczkowski, Jakub, Piotrowski, Arkadiusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9718746/
https://www.ncbi.nlm.nih.gov/pubmed/36460769
http://dx.doi.org/10.1038/s41598-022-25308-w

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