{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:14:27Z","timestamp":1760908467212,"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":[[1975,9]]},"abstract":"<jats:p>A case of Klinefelter's syndrome and a simultaneous familial D\/D translocation is described. The clinical, endocrine, and psychiatric features were typical of those found in Klinefelter's syndrome. Other family members showed no obvious abnormality despite presence of the D\/D translocation.<\/jats:p>","DOI":"10.1136\/jmg.12.3.299","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"299-301","source":"Crossref","is-referenced-by-count":5,"title":["Klinefelter's syndrome associated with a D\/D translocation."],"prefix":"10.1136","volume":"12","author":[{"given":"M","family":"Sparagana","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G P","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,9,1]]},"reference":[{"key":"ref_1","first-page":"87","article-title":"The chromosomal constitution of 165 human translocations involving D group chromosomes by autoradiography","volume":"14","author":"Cohen, M.M.","year":"1971","unstructured":"Cohen, M. M. (1971). The chromosomal constitution of 165 human translocations involving D group chromosomes by autoradiography. Annales de Genitique, 14, 87-96.","journal-title":"Annales de Genitique"},{"issue":"13","key":"ref_2","first-page":"\"t(13q14q)+.\" # \"201","volume":"47","author":"Gilgenkrantz, S.; Grilliat, J.P.; Vautrin, D.A.; Plouvier, B.; Cabrol, C.","year":"1970","unstructured":"Gilgenkrantz, S., Grilliat, J. P., Vautrin, D. A., Plouvier, B., and Cabrol, C. (1970). Syndrome 47,XXYY,13-,14-,t(13q14q)+. Annales de Genetique, 13, 201-206.","journal-title":"Syndrome"},{"key":"ref_3","volume":"2","author":"Hamerton, J.","year":"1971","unstructured":"Hamerton, J. (1971). Human Cytogenetics, vol. 2. Academic Press, New York.","journal-title":"Human Cytogenetics"},{"key":"ref_4","first-page":"2468","article-title":"Aberrations chromosomiques et maladies humaines. Syndrome de Klinefelter XXY a 46 chromosomes avec fusion centromerique T-T. Comptes Rendus Hebdomadaires des Seances de l'Academie des","volume":"250","author":"Lejeune, J.; Turpin, R.; Decourt, J.","year":"1960","unstructured":"Lejeune, J., Turpin, R., and Decourt, J. (1960). Aberrations chromosomiques et maladies humaines. Syndrome de Klinefelter XXY a 46 chromosomes avec fusion centromerique T-T. Comptes Rendus Hebdomadaires des Seances de l'Academie des Sciences, 250, 2468-2470.","journal-title":"Sciences"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparation of leukocytes cultured from human peripheral blood","volume":"20","author":"Moorehead, P.S.; Nowell, P.C.; Mellman, W.J.; Battips, D.M.; Hungerford, D.A.","year":"1960","unstructured":"Moorehead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., and Hungerford, D. A. (1960). Chromosome preparation of leukocytes cultured from human peripheral blood. Experimental Cell Research, 20, 613-616.","journal-title":"Experimental Cell Research"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"2","author":"Seabright, M.S.","year":"1971","unstructured":"Seabright, M. S. (1971). A rapid banding technique for human chromosomes. Lancet, 2, 971-972.","journal-title":"Lancet"},{"key":"ref_7","first-page":"114","article-title":"Double aneuploidy","volume":"10","author":"Tiepolo, L.; Fraccaro, M.; Hulten, M.; Lindsten, J.","year":"1967","unstructured":"Tiepolo, L., Fraccaro, M., Hulten, M., and Lindsten, J. (1967). Double aneuploidy. Annales de Ginetique, 10, 114-117.","journal-title":"Annales de Ginetique"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jmg.8.2.175","article-title":"Fertility in balanced heterozygotes for a familial centric fusion trans!ocation, t(DqDq)","volume":"8","author":"Wilson, J.A.","year":"1971","unstructured":"Wilson, J. A. (1971). Fertility in balanced heterozygotes for a familial centric fusion trans!ocation, t(DqDq). Journal of Medical Genetics, 8, 175-178.","journal-title":"Journal of Medical Genetics"},{"key":"ref_9","article-title":"Trisomy for the short arm of chromosome No","volume-title":"was first described by Rethore et","volume":"9","author":"al","year":"1970","unstructured":"Trisomy for the short arm of chromosome No. 9 was first described by Rethore et al (1970) and there are at present at least 11 reported cases in the literature (see review by Rethore et al, 1973). Most cases were derived from parental balanced translocations and were trisomic for small segments of different other chromosomes in addition to No. 9. The phenotypic spectrum of this syndrome includes microbrachicephaly, oblique antimongoloid palpebral fissures, ocular hypertelorism, malformed ears, phalangeal hypoplasia, dermatoglyphic anomalies, and variable degrees of mental retardation."},{"article-title":"Radiology showed retarded bone age and hypoplastic Received 3","year":"1974","key":"ref_10","unstructured":"Radiology showed retarded bone age and hypoplastic Received 3 September 1974."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.3.299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:56:04Z","timestamp":1759722964000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.3.299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,9]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1975,9,1]]},"published-print":{"date-parts":[[1975,9]]}},"alternative-id":["10.1136\/jmg.12.3.299"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.3.299","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1975,9]]}}}