ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Comorbidity landscape of the Danish patient population affected by chromosome abnormalities.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Article
- Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the GALAXY Registry.American journal of medical genetics. Part A · 2026Article
- Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis.International journal of molecular sciences · 2024Article
- Substance use-related problems in mild intellectual disability: A Swedish nationwide population-based cohort study with sibling comparison.JCPP advances · 2024Article
- Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome.Diseases (Basel, Switzerland) · 2023Article
- A unidirectional mapping of ICD-8 to ICD-10 codes, for harmonized longitudinal analysis of diseases.European journal of epidemiology · 2023Article
- Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype.Scientific reports · 2022Article
- Review
- Translational aspects of novel findings in genetics of male infertility-status quo 2021.British medical bulletin · 2021Review
- Ten Reasons Why People With Down Syndrome are Protected From the Development of Most Solid Tumors -A Review.Frontiers in genetics · 2021Review
- Disease trajectory browser for exploring temporal, population-wide disease progression patterns in 7.2 million Danish patients.Nature communications · 2020Article
- Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMost 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.
methodsWe 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.
resultsOur 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.
conclusionOur 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.
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