{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T05:00:58Z","timestamp":1695877258146},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7277,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a case of dup(18q) due to de novo translocation 46,XX,\u201021,t(18;21)(18qter\u2192cen\u219221qter). The patient had many characteristic signs of full trisomy 18 except for internal organ malformations and early death. We review the phenotype\u2010karyotype correlations between full trisomy 18 and dup(18q) and discuss the possibility of the existence of \u201ccritical zone(s)\u201d at the proximal or\/and distal region of 18q responsible for most signs of trisomy 18, such as congenital heart defect and early death.<\/jats:p>","DOI":"10.1002\/ajmg.1320210321","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:59:15Z","timestamp":1118519955000},"page":"591-595","source":"Crossref","is-referenced-by-count":4,"title":["Phenotype\u2010karyotype correlations in dup(18q): Report of a case and review"],"prefix":"10.1002","volume":"21","author":[{"given":"F\u00e9recht\u00e9","family":"Razavi\u2010Encha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odile","family":"Raoul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Claude","family":"Lescs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Danan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.4.353"},{"key":"e_1_2_1_3_1","first-page":"184","article-title":"Familial partial distal 18q (18q22\u201018q23) trisomy","volume":"24","author":"De Muelenaere A","year":"1981","journal-title":"Ann Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295415"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273319"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-321002-9.50011-1"},{"key":"e_1_2_1_7_1","unstructured":"HechtF(1979)Chromosome eighteen trisomy syndrome: Birth defects Compendium. 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