Dataset Information

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.

SUBMITTER: Jorgensen IF

PROVIDER: S-EPMC6831512 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Publications

Comorbidity landscape of the Danish patient population affected by chromosome abnormalities.

Jørgensen Isabella Friis IF Russo Francesco F Jensen Anders Boeck AB Westergaard David D Lademann Mette M Hu Jessica Xin JX Brunak Søren S Belling Kirstine K

Genetics in medicine : official journal of the American College of Medical Genetics 20190425 11

<h4>Purpose</h4>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.<h4>Methods</h4>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 betwee ...[more]

PMID: 31019277

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Dataset Information

Comorbidity landscape of the Danish patient population affected by chromosome abnormalities.

Purpose

Methods

Results

Conclusion

Publications

Comorbidity landscape of the Danish patient population affected by chromosome abnormalities.

Similar Datasets

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