{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:25:02Z","timestamp":1760783102360,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,9]]},"abstract":"<jats:p>A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.<\/jats:p>","DOI":"10.1136\/jmg.28.9.639","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"639-640","source":"Crossref","is-referenced-by-count":49,"title":["A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome."],"prefix":"10.1136","volume":"28","author":[{"given":"M","family":"Ireland","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"English","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Cross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W T","family":"Houlsby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Burn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,9,1]]},"reference":[{"key":"ref_1","article-title":"The de Lange syndrome","author":"Berg, J.M.; McCreay, B.D.; Ridler, M.A.C.; Smith, G.F.","year":"1970","unstructured":"Berg JM, McCreay BD, Ridler MAC, Smith GF. The de Lange syndrome. New York: Pergamon Press, 1970."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/j.1399-0004.1987.tb02835.x","article-title":"The Brachmann-de Lange syndrome in two siblings of normal parents","volume":"31","author":"Fryns, J.P.; Dereymaeker, A.M.; Hoefnagels, M.","year":"1987","unstructured":"Fryns JP, Dereymaeker AM, Hoefnagels M, et al. The Brachmann-de Lange syndrome in two siblings of normal parents. Clin Genet 1987;31:413-5.","journal-title":"Clin Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/BF00295457","article-title":"Chromosomes in the Comelia de Lange syndrome","volume":"59","author":"Beck, B.; Mikkelsen, M.","year":"1981","unstructured":"Beck B, Mikkelsen M. Chromosomes in the Comelia de Lange syndrome. Hum Genet 1981;59:271-6.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/BF00289488","article-title":"Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies","volume":"64","author":"Franceschini, P.; Cirillo Silengo, M.; Davi, G.; Bianco, R.; Biagioli, M.","year":"1983","unstructured":"Franceschini P, Cirillo Silengo M, Davi G, Bianco R, Biagioli M. Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies. Hum Genet 1983;64:97.","journal-title":"Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/ajmg.1320210204","article-title":"et al Partial deletion of distal 17q","volume":"21","author":"Bridge, J.; Sanger, W.; Mosher, G.","year":"1985","unstructured":"Bridge J, Sanger W, Mosher G, et al Partial deletion of distal 17q. Am J Med Genet 1985;21:225-9.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.9.639","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:32:06Z","timestamp":1759725126000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.9.639"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,9]]},"references-count":5,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1991,9,1]]},"published-print":{"date-parts":[[1991,9]]}},"alternative-id":["10.1136\/jmg.28.9.639"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.9.639","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,9]]}}}