{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:10:10Z","timestamp":1760731810149,"version":"build-2065373602"},"reference-count":3,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1974,12]]},"abstract":"<jats:p>Two patients with trisomy 8 mosaicism, confirmed by trypsin-Giemsa banding are described. While the majority of patients with this aneuploidy have been mosaics, the phenotypes of the complete and mosaic trisomies closely resemble each other. Mosaic trisomy 8 results in specific clinical findings which include skeletal dysplasia, particularly absent patellae, deep furrowing of the soles of the feet, and periarticular changes resulting in camptodactyly and progressive limitation of joint mobility.<\/jats:p>","DOI":"10.1136\/jmg.11.4.393","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"393-398","source":"Crossref","is-referenced-by-count":19,"title":["The trisomy 8 syndrome: two additional mosaic cases"],"prefix":"10.1136","volume":"11","author":[{"given":"B. F.","family":"Crandall","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. N.","family":"Bass","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. M.","family":"Marcy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Glovsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. H.","family":"Fish","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1974,12,1]]},"reference":[{"key":"ref_1","first-page":"281","article-title":"C8 trisomy mosaicism syndrome","volume":"27","author":"Bijlsma, J.B.; Wijffels, J.C.H.M.; Tegelaers, W.H.H.","year":"1972","unstructured":"Bijlsma, J. B., Wijffels, J. C. H. M., Tegelaers, W. H. H. (1972). C8 trisomy mosaicism syndrome. Helvetica Paediatrica Acta, 27, 281-298.","journal-title":"Helvetica Paediatrica Acta"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.9.1.1","article-title":"Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques","volume":"9","author":"Caspersson, T.; Lindsten, J.; Zech, L.; Buckton, K.E.; Price, W.H.","year":"1972","unstructured":"Caspersson, T., Lindsten, J., Zech, L., Buckton, K. E., and Price, W. H. (1972). Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. Journal of Medical Genetics, 9, 1-7.","journal-title":"Journal of Medical Genetics"},{"issue":"47","key":"ref_3","first-page":"14","article-title":"&tude en fluorescence d'une trisomie C mosaique probablement","volume":"46","author":"De Grouchy, J.; Turleau, C.; Leonard, C.","year":"1971","unstructured":"De Grouchy, J., Turleau, C., and Leonard, C. (1971). &tude en fluorescence d'une trisomie C mosaique probablement 8: 46,XY\/ 47,XY, ?8 +. Annales de Genetique, 14,69-72.","journal-title":"8"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.11.4.393","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:28:35Z","timestamp":1760729315000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.11.4.393"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1974,12]]},"references-count":3,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1974,12,1]]},"published-print":{"date-parts":[[1974,12]]}},"alternative-id":["10.1136\/jmg.11.4.393"],"URL":"https:\/\/doi.org\/10.1136\/jmg.11.4.393","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1974,12]]}}}