{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:48:07Z","timestamp":1760730487159,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,4]]},"abstract":"<jats:p>A dicentric chromosome 17 is described in a 5-year-old girl with minor malformations and severe mental retardation. The anomaly is interpreted as a de novo duplication of band 17p11 and centromere 17.<\/jats:p>","DOI":"10.1136\/jmg.20.2.138","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"138-142","source":"Crossref","is-referenced-by-count":16,"title":["De novo tandem duplication 17p11\u2192cen"],"prefix":"10.1136","volume":"20","author":[{"given":"Z","family":"Docherty","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Hult\u00e9n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M M","family":"Honeyman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,4,1]]},"reference":[{"key":"ref_1","first-page":"213","article-title":"Trisomy of the short arm of chromosome 17","volume":"23","author":"Latta, E.; Hoo, J.J.","year":"1974","unstructured":"Latta E, Hoo JJ. Trisomy of the short arm of chromosome 17. Humangenetik 1974;23:213-7.","journal-title":"Humangenetik"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1111\/j.1399-0004.1976.tb01596.x","article-title":"An extra small metacentric chromosome identified as a deleted chromosome no 17","volume":"9","author":"Palutke, W.; Chen, H.; P, Jr, Woolley","year":"1976","unstructured":"Palutke W, Chen H, Woolley P Jr, et al. An extra small metacentric chromosome identified as a deleted chromosome no 17. Clin Genet 1976;9:454-8.","journal-title":"Clin Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/BF00277633","article-title":"Partial duplication of 17p. A new chromosomal syndrome","volume":"49","author":"Bartsch-Sandhoff, M.; Hieronimi, G.","year":"1979","unstructured":"Bartsch-Sandhoff M, Hieronimi G. Partial duplication of 17p. A new chromosomal syndrome. Hum Genet 1979; 49:123-7.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/BF00278675","article-title":"Pure trisomy 17 in 60% of cells","volume":"52","year":"1979","unstructured":"Shabtai F, Shalev A, Chemke J, Halbrecht 1, Elian E. Pure trisomy 17 in 60% of cells. Hum Genet 1979;52: 263-8.","journal-title":"Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1136\/jmg.16.5.395","article-title":"A case of partial trisomy 17 resulting from X-autosomal translocation","volume":"16","author":"Yamamoto, Y.; Endo, Y.; Kuroki, Y.","year":"1979","unstructured":"Yamamoto Y, Endo Y, Kuroki Y. A case of partial trisomy 17 resulting from X-autosomal translocation. J Med Genet 1979;16:395-9.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/0027-5107(76)90105-6","article-title":"The production of micronuclei from chromosome aberrations in irradiated cultures of human lymphocytes","volume":"41","author":"Countryman, P.I.; Heddle, J.A.","year":"1976","unstructured":"Countryman PI, Heddle JA. The production of micronuclei from chromosome aberrations in irradiated cultures of human lymphocytes. Mutat Res 1976;41:321-32.","journal-title":"Mutat Res"},{"article-title":"SUMMARY A 2-year-old boy with mental and growth retardation is presented; he has a 46, XY, r(l0)(pl5q26) chromosome complement. Five previously reported cases of ring chromosome 10 were reviewed and compared with the present case in an attempt to delineate a clinical syndrome. Since the first description, identified by Giemsa banding by Lansky et al,' four other r(10) patients have been described.25 Their common features were mental and growth retardation, low birth weight, microcephaly, Received for publication","year":"1982","key":"ref_7","unstructured":"SUMMARY A 2-year-old boy with mental and growth retardation is presented; he has a 46,XY,r(l0)(pl5q26) chromosome complement. Five previously reported cases of ring chromosome 10 were reviewed and compared with the present case in an attempt to delineate a clinical syndrome. Since the first description, identified by Giemsa banding by Lansky et al,' four other r(10) patients have been described.25 Their common features were mental and growth retardation, low birth weight, microcephaly, Received for publication 11 August 1982."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.2.138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:17:17Z","timestamp":1760728637000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.2.138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,4]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1983,4,1]]},"published-print":{"date-parts":[[1983,4]]}},"alternative-id":["10.1136\/jmg.20.2.138"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.2.138","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1983,4]]}}}