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

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

Abstract 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 p...

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Bibliographic Details
Main Authors: Magdalena Koczkowska, Marcin Jąkalski, Dorota Birkholz-Walerzak, Anna Kostecka, Mariola Iliszko, Magdalena Wójcik, Krzysztof Lewandowski, Katarzyna Milska-Musa, Patrick G. Buckley, Kinga Drężek, Ulana Juhas, Ewa Kuziemska, Agnieszka Maciejewska, Ryszard Pawłowski, Bartosz Wasąg, Natalia Filipowicz, Katarzyna Chojnowska, Urszula Ławrynowicz, Jan P. Dumanski, Beata S. Lipska-Ziętkiewicz, Jakub Mieczkowski, Arkadiusz Piotrowski
Format: Article
Language:English
Published: Nature Portfolio 2022-12-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-25308-w

Internet

https://doi.org/10.1038/s41598-022-25308-w

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