Search: WFRF:(Buckley Patrick G) >
Personalized health...
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Koczkowska, MagdalenaMed Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
(author)
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
- Article/chapterEnglish2022
Publisher, publication year, extent ...
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2022-12-02
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Springer Nature,2022
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-498876
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-498876URI
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https://doi.org/10.1038/s41598-022-25308-wDOI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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 cases have been described so far with very limited follow-up data, to assess the proband's long-term prognosis, including cancer risk, we performed high-throughput single-cell RNA sequencing (scRNA-seq) analysis. Although comprehensive cytogenetic analysis showed seemingly near perfect balance between 45, X and 48, XYYY cell populations, scRNA-seq revealed widespread differences in genotype distribution among immune cell fractions, specifically in monocytes, B- and T-cells. These results were confirmed at DNA level by digital-droplet PCR on flow-sorted immune cell types. Furthermore, deregulation of predominantly autosomal genes was observed, including TCL1A overexpression in 45, X B-lymphocytes and other known genes associated with hematological malignancies. Together with the standard hematological results, showing increased fractions of monocytes and CD4+/CD8+T lymphocytes ratio, long-term personalized hemato-oncological surveillance was recommended in the reported patient.
Subject headings and genre
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Jakalski, MarcinMed Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Birkholz-Walerzak, DorotaMed Univ Gdansk, Dept Paediat Diabetol & Endocrinol, Gdansk, Poland.
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Kostecka, AnnaMed Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Iliszko, MariolaMed Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland.;Univ Clin Ctr, Lab Clin Genet, Gdansk, Poland.
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Wojcik, MagdalenaMed Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Lewandowski, KrzysztofMed Univ Gdansk, Dept Lab Med, Gdansk, Poland.
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Milska-Musa, KatarzynaMed Univ Gdansk, Dept Qual Life Res, Fac Hlth Sci, Inst Maritime & Trop Med, Gdansk, Poland.
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Buckley, Patrick G.Genuity Sci, Genom Ctr, Dublin, Ireland.
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Drezek, KingaMed Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Juhas, UlanaMed Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Kuziemska, EwaMed Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland.;Univ Clin Ctr, Lab Clin Genet, Gdansk, Poland.
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Maciejewska, AgnieszkaMed Univ Gdansk, Dept Forens Med, Gdansk, Poland.
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Pawlowski, RyszardMed Univ Gdansk, Dept Forens Med, Gdansk, Poland.
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Wasag, BartoszMed Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland.;Univ Clin Ctr, Lab Clin Genet, Gdansk, Poland.
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Filipowicz, NataliaMed Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Chojnowska, KatarzynaMed Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Lawrynowicz, UrszulaMed Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Dumanski, Jan P.Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.(Swepub:uu)janduman
(author)
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Lipska-Zietkiewicz, Beata S.Med Univ Gdansk, Rare Dis Ctr, Gdansk, Poland.;Med Univ Gdansk, Dept Biol & Med Genet, Clin Genet Unit, Gdansk, Poland.
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Mieczkowski, JakubMed Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Piotrowski, ArkadiuszMed Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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In:Scientific Reports: Springer Nature12:12045-2322
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Koczkowska, Magd ...
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