{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:13:06Z","timestamp":1759691586264,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,4]]},"abstract":"<jats:p>A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.<\/jats:p>","DOI":"10.1136\/jmg.15.2.148","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"148-151","source":"Crossref","is-referenced-by-count":12,"title":["Partial trisomy 18 in a family with a translocation (18;21)(q21;q22)."],"prefix":"10.1136","volume":"15","author":[{"given":"M","family":"Niazi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D V","family":"Coleman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Salda\u00f1a-Garcia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,4,1]]},"reference":[{"key":"ref_1","first-page":"559","article-title":"The E syndrome (trisomy 17-18) resulting from a maternal chromosomal translocation","volume":"87","author":"Brodie, H.R.; Dallaire, L.","year":"1962","unstructured":"Brodie, H. R., and Dallaire, L. (1962). The E syndrome (trisomy 17-18) resulting from a maternal chromosomal translocation. Canadian MedicalAssociation Journal, 87, 559-561.","journal-title":"Canadian MedicalAssociation Journal"},{"key":"ref_2","first-page":"45","article-title":"Trisomy 18 with an E\/G translocation \/46, XY,21-, t(21q 18q)+\/. Identification of the component chromosomes by several laboratory techniques","volume":"15","author":"Cohen, M.M.; Finch, A.B.; Lubs, H.A.","year":"1972","unstructured":"Cohen, M. M., Finch, A. B., and Lubs, H. A. (1972). Trisomy 18 with an E\/G translocation \/46,XY,21-,t(21q 18q)+\/. Identification of the component chromosomes by several laboratory techniques. Annales de Ge'n6tique, 15, 45-49.","journal-title":"Annales de Ge'n6tique"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/BF00270865","article-title":"The trisomy 18 syndrome with an E\/G translocation","volume":"31","author":"Dziekanowska, D.; Dziuba, P.; Sobaiiski, T.","year":"1976","unstructured":"Dziekanowska, D., Dziuba, P., and Sobaiiski, T. (1976). The trisomy 18 syndrome with an E\/G translocation. Human Genetics, 31, 347-349.","journal-title":"Human Genetics"},{"key":"ref_4","first-page":"278","volume":"2","author":"Hamerton, J.L.","year":"1971","unstructured":"Hamerton, J. L. (1971). Human Cytogenetics, vol. 2, p. 278.","journal-title":"Human Cytogenetics"},{"key":"ref_5","first-page":"20","article-title":"Chromosome preparations of leucocytes cultured from peripheral blood","author":"Moorhead, P.S.; Nowell, P.C.; Mellman, W.J.; Battips, D.M.; Hungerford, D.A.","year":"1960","unstructured":"Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., and Hungerford, D. A. (1960). Chromosome preparations of leucocytes cultured from peripheral blood. Experimental Cell Research, 20,613-616.","journal-title":"Experimental Cell Research"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1136\/jmg.13.6.520","article-title":"Inclusion of satellites in an 18\/21 translocation chromosome shown by ammoniacalsilver staining (sat-banding) in case of partial trisomy 18","volume":"13","author":"Neu, R.L.; Ortega, C.C.; Barg, G.A.; Pinto, W.; Gardner, L.I.; Howell, W.M.; Denton, T.E.","year":"1976","unstructured":"Neu, R. L., Ortega, C. C., Barg, G. A., Pinto, W., Gardner, L. I., Howell, W. M., and Denton, T. E. (1976). Inclusion of satellites in an 18\/21 translocation chromosome shown by ammoniacalsilver staining (sat-banding) in case of partial trisomy 18. Journal ofMedical Genetics, 13, 520-522.","journal-title":"Journal ofMedical Genetics"},{"key":"ref_7","first-page":"2","article-title":"A rapid banding technique for human chromosomes","author":"Seabright, M.","year":"1971","unstructured":"Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet, 2,971-972.","journal-title":"Lancet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1136\/jmg.5.3.227","article-title":"Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome","volume":"5","author":"Taylor, A.I.","year":"1968","unstructured":"Taylor, A. I. (1968). Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. Journal ofMedical Genetics, 5, 227-241.","journal-title":"Journal ofMedical Genetics"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.2.148","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:48:12Z","timestamp":1759690092000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.2.148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,4]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1978,4,1]]},"published-print":{"date-parts":[[1978,4]]}},"alternative-id":["10.1136\/jmg.15.2.148"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.2.148","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,4]]}}}