{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:18:50Z","timestamp":1760833130109,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,2]]},"abstract":"<jats:p>A dicentric translocation is described involving chromosomes 13 and 18 in which the centromere of chromosome 13 was suppressed. The translocation was ascertained by repeated miscarriages and was found in three generations of phenotypically normal carriers.<\/jats:p>","DOI":"10.1136\/jmg.16.1.73","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"73-75","source":"Crossref","is-referenced-by-count":6,"title":["Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages."],"prefix":"10.1136","volume":"16","author":[{"given":"A","family":"Daniel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I D","family":"Perel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Saville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/BF00278889","article-title":"An improved technique for selective silver staining of nucleolar organiser regions in human chromosomes","volume":"34","author":"Bloom, S.E.; Goodpasture, C.","year":"1976","unstructured":"Bloom, S. E., and Goodpasture, C. (1976). An improved technique for selective silver staining of nucleolar organiser regions in human chromosomes. Human Genetics, 34, 199-206.","journal-title":"Human Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1136\/jmg.13.5.381","article-title":"Structure and inheritance of some heterozygous Robertsonian translocations in man","volume":"13","author":"Daniel, A.; Lam-Po-Tang, P.R.L.C.","year":"1976","unstructured":"Daniel, A., and Lam-Po-Tang, P. R. L. C. (1976). Structure and inheritance of some heterozygous Robertsonian translocations in man. Journal of Medical Genetics, 13, 381-388.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1111\/j.1399-0004.1976.tb01623.x","article-title":"Mental retardation, malformation and partial 7p monosomy, 45, XX, t dic(7","volume":"9","author":"Nakagome, Y.; Teramura, F.; Kataoka, K.; Hosono, F.","year":"1976","unstructured":"Nakagome, Y., Teramura, F., Kataoka, K., and Hosono, F. (1976). Mental retardation, malformation and partial 7p monosomy, 45,XX, t dic(7;15)(p21;pl 1). Clinical Genetics, 9, 621-634.","journal-title":"15)(p21; pl; Clinical Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1159\/000130186","article-title":"A 45, XX,5-13-dic+ karyotype in a case of Cri-du-chat syndrome","volume":"11","author":"Niebuhr, E.","year":"1972","unstructured":"Niebuhr, E. (1972). A 45,XX,5-13-dic+ karyotype in a case of Cri-du-chat syndrome. Cytogenetics, 11, 165-177.","journal-title":"Cytogenetics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1111\/j.1399-0004.1974.tb01681.x","article-title":"A woman with congenital abnormalities, mental retardation and mosaicism for an unusual translocation chromosome t(6","volume":"5","author":"Pallister, P.D.; Patau, K.; Inhorn, S.L.; Opitz, J.M.","year":"1974","unstructured":"Pallister, P. D., Patau, K., Inhorn, S. L., and Opitz, J. M. (1974). A woman with congenital abnormalities, mental retardation and mosaicism for an unusual translocation chromosome t(6;19). Clinical Genetics, 5, 188-195.","journal-title":"Clinical Genetics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1136\/jmg.14.1.66","article-title":"A stable dicentric autosome, t dic(8; 22)(p23; pl3) in a mentally retarded girl","volume":"14","author":"Roberts, S.H.; Howell, R.T.; Laurence, K.M.; Heathcote, M.E.","year":"1977","unstructured":"Roberts, S. H., Howell, R. T., Laurence, K. M., and Heathcote, M. E. (1977). A stable dicentric autosome, t dic(8;22)(p23;pl3) in a mentally retarded girl. Journal of Medical Genetics, 14, 66-68.","journal-title":"Journal of Medical Genetics"},{"key":"ref_7","first-page":"136","article-title":"Dicentric chromosome due to an unusual fusion","volume":"12","year":"1971","unstructured":"Subrt, I., Blehovd, B., and Taborsky, 0. (1971). Dicentric chromosome due to an unusual fusion. Humangenetik, 12, 136-141.","journal-title":"Humangenetik"},{"key":"ref_8","first-page":"439","article-title":"A stable human dicentric chromosome, t dic(12; 14)(pl3; pl 3) including an intercalary satellite region between centromeres","volume":"25","author":"Warburton, D.; Henderson, A.S.; Shapiro, L.R.; Hsu, L.Y.F.","year":"1973","unstructured":"Warburton, D., Henderson, A. S., Shapiro, L. R., and Hsu, L. Y. F. (1973). A stable human dicentric chromosome, t dic(12;14)(pl3;pl 3) including an intercalary satellite region between centromeres. American Journal of Human Genetics, 25, 439-455.","journal-title":"American Journal of Human Genetics"},{"key":"ref_9","article-title":"Ten patients have previously been described with deletion of a distal portion of the short arm of chromosome","volume-title":"The patients had several features in common which suggest a recognisable syndrome: mental retardation, trigonocephaly or prominent forehead, flat occiput, flat nasal bridge, anteverted nostrils, long philtrum, micrognathia or retrognathia with wide gonial angle, abnormal auricles","author":"Orye","year":"1977","unstructured":"Ten patients have previously been described with deletion of a distal portion of the short arm of chromosome 9 (Orye et al., 1975; Alfi et al., 1976; Serville et al., 1976; Kuroki et al., 1977; Nielsen et al., 1977). The patients had several features in common which suggest a recognisable syndrome: mental retardation, trigonocephaly or prominent forehead, flat occiput, flat nasal bridge, anteverted nostrils, long philtrum, micrognathia or retrognathia with wide gonial angle, abnormal auricles, short"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.1.73","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:27:21Z","timestamp":1760772441000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.1.73"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,2]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1979,2,1]]},"published-print":{"date-parts":[[1979,2]]}},"alternative-id":["10.1136\/jmg.16.1.73"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.1.73","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1979,2]]}}}