{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:38:31Z","timestamp":1790779111041,"version":"4.1.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Sex chromosomal abnormalities are relatively common, yet many aspects of these syndromes remain unexplored. For instance epidemiological data in\n                      <jats:italic>47,XYY<\/jats:italic>\n                      persons are still limited.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Using a national Danish registry, we identified 208 persons with\n                      <jats:italic>47,XYY<\/jats:italic>\n                      or a compatible karyotype, whereof 36 were deceased; all were diagnosed from 1968 to 2008. For further analyses, we identified age matched controls from the male background population (n = 20,078) in Statistics Denmark. We report nationwide prevalence data, data regarding age at diagnosis, as well as total and cause specific mortality data in these persons.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The average prevalence was 14.2 47,XYY persons per 100,000, which is reduced compared to the expected 98 per 100,000. Their median age at diagnosis was 17.1 years. We found a significantly decreased lifespan from 77.9 years (controls) to 67.5 years (\n                      <jats:italic>47,XYY<\/jats:italic>\n                      persons). Total mortality was significantly increased compared to controls, with a hazard ratio of 3.6 (2.6-5.1). Dividing the causes of deaths according to the International Classification of Diseases, we identified an increased hazard ratio in all informative chapters, with a significantly increased ratio in cancer, pulmonary, neurological and unspecified diseases, and trauma.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We here present national epidemiological data regarding\n                      <jats:italic>47,XYY<\/jats:italic>\n                      syndrome, including prevalence and mortality data, showing a significantly delay to diagnosis, reduced life expectancy and an increased total and cause specific mortality.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/1750-1172-5-15","type":"journal-article","created":{"date-parts":[[2010,5,29]],"date-time":"2010-05-29T14:15:00Z","timestamp":1275142500000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":82,"title":["Diagnosis and mortality in 47,XYY persons: a registry study"],"prefix":"10.1186","volume":"5","author":[{"given":"Kirstine","family":"Stochholm","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svend","family":"Juul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus H","family":"Gravholt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,5,29]]},"reference":[{"key":"178_CR1","doi-asserted-by":"publisher","first-page":"1351","DOI":"10.1038\/2081351a0","volume":"208","author":"P Jacobs","year":"1965","unstructured":"Jacobs P, Brunton M, Melville M, Brittain R, McClemont W: Aggressive behavior, mental sub-normality and the XYY male. Nature. 1965, 208: 1351-1352. 10.1038\/2081351a0.","journal-title":"Nature"},{"key":"178_CR2","first-page":"62","volume":"28","author":"W Goad","year":"1976","unstructured":"Goad W, Robinson A, Puck T: Incidence of aneuploidy in a human population. The American Journal of Human Genetics. 1976, 28: 62-68.","journal-title":"The American Journal of Human Genetics"},{"key":"178_CR3","first-page":"209","volume":"26","author":"J Nielsen","year":"1991","unstructured":"Nielsen J, Wohlert M: Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. 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