{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:10:17Z","timestamp":1760724617741,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,6]]},"abstract":"<jats:p>Two unrelated patients with a de novo partial trisomy 8 (q21 leads to qter) are presented. They had strikingly similar phenotypes, characterised by a wide face with hypertelorism, a broad based nose, malformed ears, micrognathia, and a very short neck. A cleft palate, cardiac defects, and hydronephrosis were present in both patients. The relation between the 8qter syndrome and trisomy 8 (Warkany syndrome) is discussed.<\/jats:p>","DOI":"10.1136\/jmg.18.3.204","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"204-208","source":"Crossref","is-referenced-by-count":14,"title":["Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation."],"prefix":"10.1136","volume":"18","author":[{"given":"E S","family":"Sachs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"van Waveren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/0014-4827(72)90510-1","article-title":"Translocation 8-22 sans changement de longueur et trisomie partielle 8q","volume":"74","author":"Lejeune, J.; Rethor6, M.O.; Dutrillaux, B.; Martin, G.","year":"1972","unstructured":"Lejeune J, Rethor6 MO, Dutrillaux B, Martin G. Translocation 8-22 sans changement de longueur et trisomie partielle 8q. Exp Cell Res 1972;74:293-5.","journal-title":"Exp Cell Res"},{"key":"ref_2","first-page":"171","article-title":"Trisomy 8: an international study of 70 patients","volume":"3","author":"Riccardi, V.M.","year":"1977","unstructured":"Riccardi VM. Trisomy 8: an international study of 70 patients. Birth Defects 1977;XIIJ, 3C:171-84.","journal-title":"Birth Defects"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/BF00293767","article-title":"Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome","volume":"37","author":"Schinzel, A.","year":"1977","unstructured":"Schinzel A. Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome. Hum Genet 1977;37:17-26.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1111\/j.1399-0004.1979.tb01347.x","article-title":"Complete and partial trisomy of different segments of chromosome 8: case reports and review","volume":"16","author":"Fineman, R.M.; Ablow, R.C.; Breg, W.R.","year":"1979","unstructured":"Fineman RM, Ablow RC, Breg WR, et al. Complete and partial trisomy of different segments of chromosome 8: case reports and review. Clin Genet 1979;16:390-8.","journal-title":"Clin Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/BF00284772","article-title":"Karyotype-phenotype correlation: mosaic trisomy 8 and partial trisomies of different segments of chromosome 8","volume":"41","author":"Riccardi, V.M.; Crandall, B.F.","year":"1978","unstructured":"Riccardi VM, Crandall BF. Karyotype-phenotype correlation: mosaic trisomy 8 and partial trisomies of different segments of chromosome 8. 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Am J Dis Child 1978;132:498-501.","journal-title":"Am J Dis Child"},{"key":"ref_8","first-page":"241","article-title":"A fetus with recombinant of chromosome","volume":"40","author":"Fujimoto, A.; Towner, J.W.; Turkel, S.B.; Wilson, M.G.","year":"1978","unstructured":"Fujimoto A, Towner JW, Turkel SB, Wilson MG. A fetus with recombinant of chromosome 8 inherited from her carrier father. Hum Genet 1978;40:241-8.","journal-title":"Hum Genet; her carrier father"},{"key":"ref_9","first-page":"609","article-title":"Diagnostic chromosomique d'un Dp+ par l'association de plusieurs techniques de marquage","volume":"232","author":"Laurent, C.; Biemont, M.C.; Midenet, M.; Couturier, P.; Dutrillaux, B.","year":"1974","unstructured":"Laurent C, Biemont MC, Midenet M, Couturier P, Dutrillaux B. Diagnostic chromosomique d'un Dp+ par l'association de plusieurs techniques de marquage. Lyon Med 1974;232:609-15","journal-title":"Lyon Med"},{"key":"ref_10","unstructured":"Requests for reprints to Dr E S Sachs, Department of Cell Biology and Genetics, Erasmus Universiteit Rotterdam, Postbus 1738, 3000 DR Rotterdam, The Netherlands.","article-title":"Requests for reprints to Dr E S Sachs, Department of Cell Biology and Genetics, Erasmus Universiteit Rotterdam, Postbus 1738, 3000 DR"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.3.204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:37:12Z","timestamp":1760722632000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.3.204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,6]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1981,6,1]]},"published-print":{"date-parts":[[1981,6]]}},"alternative-id":["10.1136\/jmg.18.3.204"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.3.204","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,6]]}}}