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Personalized health...
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
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- Koczkowska, Magdalena (author)
- Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Jakalski, Marcin (author)
- Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Birkholz-Walerzak, Dorota (author)
- Med Univ Gdansk, Dept Paediat Diabetol & Endocrinol, Gdansk, Poland.
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- Kostecka, Anna (author)
- Med Univ Gdansk, Fac Pharm, Gdansk, Poland.;Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Iliszko, Mariola (author)
- Med Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland.;Univ Clin Ctr, Lab Clin Genet, Gdansk, Poland.
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- Wojcik, Magdalena (author)
- Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Lewandowski, Krzysztof (author)
- Med Univ Gdansk, Dept Lab Med, Gdansk, Poland.
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- Milska-Musa, Katarzyna (author)
- Med Univ Gdansk, Dept Qual Life Res, Fac Hlth Sci, Inst Maritime & Trop Med, Gdansk, Poland.
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- Buckley, Patrick G. (author)
- Genuity Sci, Genom Ctr, Dublin, Ireland.
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- Drezek, Kinga (author)
- Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Juhas, Ulana (author)
- Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Kuziemska, Ewa (author)
- Med Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland.;Univ Clin Ctr, Lab Clin Genet, Gdansk, Poland.
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- Maciejewska, Agnieszka (author)
- Med Univ Gdansk, Dept Forens Med, Gdansk, Poland.
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- Pawlowski, Ryszard (author)
- Med Univ Gdansk, Dept Forens Med, Gdansk, Poland.
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- Wasag, Bartosz (author)
- Med Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland.;Univ Clin Ctr, Lab Clin Genet, Gdansk, Poland.
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- Filipowicz, Natalia (author)
- Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Chojnowska, Katarzyna (author)
- Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Lawrynowicz, Urszula (author)
- Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Dumanski, Jan P. (author)
- 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.
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- Lipska-Zietkiewicz, Beata S. (author)
- 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, Jakub (author)
- Med Univ Gdansk, 3P Med Lab, Gdansk, Poland.
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- Piotrowski, Arkadiusz (author)
- Med 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. (creator_code:org_t)
- 2022-12-02
- 2022
- English.
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In: Scientific Reports. - : Springer Nature. - 2045-2322. ; 12:1
- Related links:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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Abstract
Subject headings
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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
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Koczkowska, Magd ...
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Jakalski, Marcin
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Birkholz-Walerza ...
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Kostecka, Anna
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Iliszko, Mariola
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Wojcik, Magdalen ...
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show more...
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Lewandowski, Krz ...
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Milska-Musa, Kat ...
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Buckley, Patrick ...
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Drezek, Kinga
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Juhas, Ulana
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Kuziemska, Ewa
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Maciejewska, Agn ...
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Pawlowski, Rysza ...
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Wasag, Bartosz
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Filipowicz, Nata ...
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Chojnowska, Kata ...
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Lawrynowicz, Urs ...
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Dumanski, Jan P.
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Lipska-Zietkiewi ...
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Mieczkowski, Jak ...
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Piotrowski, Arka ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Scientific Repor ...
- By the university
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Uppsala University