{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:41:22Z","timestamp":1760773282874,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,10]]},"abstract":"<jats:p>A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.<\/jats:p>","DOI":"10.1136\/jmg.20.5.389","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"389-392","source":"Crossref","is-referenced-by-count":12,"title":["A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation."],"prefix":"10.1136","volume":"20","author":[{"given":"D A","family":"Couzin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Watt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I A","family":"Auchterlonie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1136\/jmg.19.5.375","article-title":"Thomas IM. A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility","volume":"19","author":"A, I.Joseph","year":"1982","unstructured":"I Joseph A. Thomas IM. A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility. J Med Genet 1982;19:307-9.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"285","article-title":"Remaniement complexe de noi'o touchant quatre chromosomes chez un nouveau-ne","volume":"16","author":"Martinetti, J.; Noel, B.","year":"1973","unstructured":"Martinetti J, Noel B. Remaniement complexe de noi'o touchant quatre chromosomes chez un nouveau-ne. Anti Genet(Paris) 1973;16:285-8.","journal-title":"Anti Genet(Paris)"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1159\/000130846","article-title":"Rearrangemenits involving four chromosomes in a child with congenital abnormalities. C 'togenet","volume":"20","author":"Seabright, M.; Gregson, N.; Pacifico, E.","year":"1978","unstructured":"Seabright M, Gregson N, Pacifico E, et al. Rearrangemenits involving four chromosomes in a child with congenital abnormalities. C 'togenet Cell Genet 1978;20:150-4.","journal-title":"Cell Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/BF00120175","article-title":"Mammalianl chromosomes G-banded in four minutes","volume":"47","author":"Stephen, G.S.","year":"1977","unstructured":"Stephen GS. Mammalianl chromosomes G-banded in four minutes. Genetica 1977;47:115-6.","journal-title":"Genetica"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/0014-4827(72)90558-7","article-title":"A simple technique for demonstrating centromeric heterochromatin","volume":"75","author":"Sumner, A.T.","year":"1972","unstructured":"Sumner AT. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 1972;75:304-6.","journal-title":"Exp Cell Res"},{"key":"ref_6","article-title":"An international system for human cytogenietic nomenclature","author":"I.S.C.N.","year":"1978","unstructured":"ISCN. An international system for human cytogenietic nomenclature (1978). Birth Defe'cts 1978;XIV:No 8.","journal-title":"Birth Defe'cts; XIV: No 8"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/249164a0","article-title":"Correlation between diploid structural chromosome rearrangements and mental subnormality in humans","volume":"249","author":"Jacobs, P.A.","year":"1974","unstructured":"Jacobs PA. Correlation between diploid structural chromosome rearrangements and mental subnormality in humans. Natiore 1974;249:164-5.","journal-title":"Natiore"},{"key":"ref_8","first-page":"136","article-title":"Sparkes RS. Mental retardation associated with \"balanced\" chromosonme rearrangements","volume":"29","author":"MA, Funderburk S.J.Spence","year":"1977","unstructured":"Funderburk SJ. Spence MA. Sparkes RS. Mental retardation associated with \"balanced\" chromosonme rearrangements. An J Hlirn Genet 1977;29:136-41.","journal-title":"An J Hlirn Genet"},{"key":"ref_9","first-page":"304","article-title":"Familial balanced","volume":"7","author":"Schwinger, F.; Mikkelsen, M.; Niesen, M.","year":"1975","unstructured":"Schwinger F, Mikkelsen M, Niesen M. Familial balanced (7,l 1;21) translocation and Downi's syndrome in two siblings. Clin Genet 1975;7:304-7.","journal-title":"Clin Genet; translocation and Downi's syndrome in two siblings"},{"key":"ref_10","first-page":"317","article-title":"A complex translocation involving chromosomes 3, l and 14 with an interstitial deletion del(14)(ql3q22) in a child with congenital glaucoma and cleft lip and palate","volume":"14","year":"1978","unstructured":"A complex translocation involving chromosomes 3, l and 14 with an interstitial deletion del(14)(ql3q22) in a child with congenital glaucoma and cleft lip and palate. Bir-th Defectis 1978;14:317-22.","journal-title":"Bir-th Defectis"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.5.389","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:07:26Z","timestamp":1760771246000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.5.389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,10]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1983,10,1]]},"published-print":{"date-parts":[[1983,10]]}},"alternative-id":["10.1136\/jmg.20.5.389"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.5.389","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1983,10]]}}}