{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:47:52Z","timestamp":1760906872409},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3963,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An infant girl with manifestations resembling Opitz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments of 13q. Precise characterization was possible with the application of fluorescence in situ hybridization (FISH) using chromosome specific probes. The patient's phenotype is compared to that of other syndromes involving trigonocephaly. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320520118","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:57:29Z","timestamp":1118537849000},"page":"92-96","source":"Crossref","is-referenced-by-count":22,"title":["FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype"],"prefix":"10.1002","volume":"52","author":[{"given":"Thomas W.","family":"Chu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad S.","family":"Teebi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. R.","family":"Breg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa L.","family":"Yang\u2010Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090209"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370407"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1148\/74.2.206"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370405"},{"key":"e_1_2_1_6_1","first-page":"191","article-title":"Distal 11q deletion: A specific clinical entity","volume":"42","author":"Fryns JP","year":"1987","journal-title":"Helv Pediatr Acta"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.3.351"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400413"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00675.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-7799(92)90163-P"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370404"},{"key":"e_1_2_1_12_1","first-page":"161","volume-title":"Malformation Syndromes","author":"Opitz JM","year":"1969"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230409"},{"key":"e_1_2_1_14_1","first-page":"72","article-title":"Nosology of the C syndrome","volume":"9","author":"Reynolds JF","year":"1990","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.39"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569970"},{"key":"e_1_2_1_17_1","first-page":"309","article-title":"Terminal deletion of the short arm of chromosome 13, del(3pter p25): a recognizable syndrome","volume":"42","author":"Schwyzer U","year":"1987","journal-title":"Helv Paediat Acta"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370406"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.310"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-0107-3"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140416"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320520118","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320520118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T01:16:13Z","timestamp":1698110173000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320520118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,8]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,8]]}},"alternative-id":["10.1002\/ajmg.1320520118"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320520118","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,8]]}}}