Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

Research output: Contribution to journalJournal articlepeer-review

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Comorbidity landscape of the Danish patient population affected by chromosome abnormalities. / Jørgensen, Isabella Friis; Russo, Francesco; Jensen, Anders Boeck; Westergaard, David; Lademann, Mette; Hu, Jessica Xin; Brunak, Søren; Belling, Kirstine.

In: Genetics In Medicine, Vol. 21, 2019.

Research output: Contribution to journalJournal articlepeer-review

Harvard

Jørgensen, IF, Russo, F, Jensen, AB, Westergaard, D, Lademann, M, Hu, JX, Brunak, S & Belling, K 2019, 'Comorbidity landscape of the Danish patient population affected by chromosome abnormalities', Genetics In Medicine, vol. 21. https://doi.org/10.1038/s41436-019-0519-9

APA

Jørgensen, I. F., Russo, F., Jensen, A. B., Westergaard, D., Lademann, M., Hu, J. X., Brunak, S., & Belling, K. (2019). Comorbidity landscape of the Danish patient population affected by chromosome abnormalities. Genetics In Medicine, 21. https://doi.org/10.1038/s41436-019-0519-9

Vancouver

Jørgensen IF, Russo F, Jensen AB, Westergaard D, Lademann M, Hu JX et al. Comorbidity landscape of the Danish patient population affected by chromosome abnormalities. Genetics In Medicine. 2019;21. https://doi.org/10.1038/s41436-019-0519-9

Author

Jørgensen, Isabella Friis ; Russo, Francesco ; Jensen, Anders Boeck ; Westergaard, David ; Lademann, Mette ; Hu, Jessica Xin ; Brunak, Søren ; Belling, Kirstine. / Comorbidity landscape of the Danish patient population affected by chromosome abnormalities. In: Genetics In Medicine. 2019 ; Vol. 21.

Bibtex

@article{ce4efe38d0214787a0946f5afa20db0a,
title = "Comorbidity landscape of the Danish patient population affected by chromosome abnormalities",
abstract = "PURPOSE: Most chromosome abnormality patients require long-term clinical care. Awareness of mosaicism and comorbidities can potentially guide such health care. Here we present a population-wide analysis of direct and inverse comorbidities affecting patients with chromosome abnormalities.METHODS: We extracted direct and inverse comorbidities for the 11 most prevalent chromosome abnormalities from the Danish National Patient Registry (covering 6.9 million patients hospitalized between 1994 and 2015): trisomy 13, 18, and 21, Klinefelter (47,XXY), triple X, XYY, Turner (45,X), Wolf-Hirschhorn, Cri-du-chat, Angelman, and Fragile X syndromes (FXS). We also performed four sub-analyses for male/female Down syndrome (DS) and FXS and non-mosaic/mosaic DS and Turner syndrome.RESULTS: Our data cover 9,003 patients diagnosed with at least one chromosome abnormality. Each abnormality showed a unique comorbidity signature, but clustering of their profiles underlined common risk profiles for chromosome abnormalities with similar genetic backgrounds. We found that DS had a decreased risk for three inverse cancer comorbidities (lung, breast, and skin) and that male FXS and non-mosaic patients have a much more severe phenotype than female FXS and mosaic patients, respectively.CONCLUSION: Our study underlines the importance of considering mosaicism, sex, and the associated comorbidity profiles of chromosome abnormalities to guide long-term health care of affected patients.",
author = "J{\o}rgensen, {Isabella Friis} and Francesco Russo and Jensen, {Anders Boeck} and David Westergaard and Mette Lademann and Hu, {Jessica Xin} and S{\o}ren Brunak and Kirstine Belling",
year = "2019",
doi = "10.1038/s41436-019-0519-9",
language = "English",
volume = "21",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

AU - Jørgensen, Isabella Friis

AU - Russo, Francesco

AU - Jensen, Anders Boeck

AU - Westergaard, David

AU - Lademann, Mette

AU - Hu, Jessica Xin

AU - Brunak, Søren

AU - Belling, Kirstine

PY - 2019

Y1 - 2019

N2 - PURPOSE: Most chromosome abnormality patients require long-term clinical care. Awareness of mosaicism and comorbidities can potentially guide such health care. Here we present a population-wide analysis of direct and inverse comorbidities affecting patients with chromosome abnormalities.METHODS: We extracted direct and inverse comorbidities for the 11 most prevalent chromosome abnormalities from the Danish National Patient Registry (covering 6.9 million patients hospitalized between 1994 and 2015): trisomy 13, 18, and 21, Klinefelter (47,XXY), triple X, XYY, Turner (45,X), Wolf-Hirschhorn, Cri-du-chat, Angelman, and Fragile X syndromes (FXS). We also performed four sub-analyses for male/female Down syndrome (DS) and FXS and non-mosaic/mosaic DS and Turner syndrome.RESULTS: Our data cover 9,003 patients diagnosed with at least one chromosome abnormality. Each abnormality showed a unique comorbidity signature, but clustering of their profiles underlined common risk profiles for chromosome abnormalities with similar genetic backgrounds. We found that DS had a decreased risk for three inverse cancer comorbidities (lung, breast, and skin) and that male FXS and non-mosaic patients have a much more severe phenotype than female FXS and mosaic patients, respectively.CONCLUSION: Our study underlines the importance of considering mosaicism, sex, and the associated comorbidity profiles of chromosome abnormalities to guide long-term health care of affected patients.

AB - PURPOSE: Most chromosome abnormality patients require long-term clinical care. Awareness of mosaicism and comorbidities can potentially guide such health care. Here we present a population-wide analysis of direct and inverse comorbidities affecting patients with chromosome abnormalities.METHODS: We extracted direct and inverse comorbidities for the 11 most prevalent chromosome abnormalities from the Danish National Patient Registry (covering 6.9 million patients hospitalized between 1994 and 2015): trisomy 13, 18, and 21, Klinefelter (47,XXY), triple X, XYY, Turner (45,X), Wolf-Hirschhorn, Cri-du-chat, Angelman, and Fragile X syndromes (FXS). We also performed four sub-analyses for male/female Down syndrome (DS) and FXS and non-mosaic/mosaic DS and Turner syndrome.RESULTS: Our data cover 9,003 patients diagnosed with at least one chromosome abnormality. Each abnormality showed a unique comorbidity signature, but clustering of their profiles underlined common risk profiles for chromosome abnormalities with similar genetic backgrounds. We found that DS had a decreased risk for three inverse cancer comorbidities (lung, breast, and skin) and that male FXS and non-mosaic patients have a much more severe phenotype than female FXS and mosaic patients, respectively.CONCLUSION: Our study underlines the importance of considering mosaicism, sex, and the associated comorbidity profiles of chromosome abnormalities to guide long-term health care of affected patients.

U2 - 10.1038/s41436-019-0519-9

DO - 10.1038/s41436-019-0519-9

M3 - Journal article

C2 - 31019277

VL - 21

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

ER -

ID: 216969763