{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:46:33Z","timestamp":1760906793057},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,6,21]],"date-time":"2002-06-21T00:00:00Z","timestamp":1024617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,7,22]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 4\u2010year\u2010old boy with left cleft lip and cleft palate, multiple minor anomalies and developmental delay revealed an abnormal chromosome 2 with enlarged proximal long arm, de novo, in his karyotype. Fluorescence in situ hybridization with a chromosome 2 library and band\u2010specific YACs confined the duplicated segment to 2q11.1\u2010q13.2 and indicated a direct tandem duplication due to unbalanced crossover between chromatids. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10534","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:52:48Z","timestamp":1033905168000},"page":"76-80","source":"Crossref","is-referenced-by-count":5,"title":["Duplication of (2)(q11.1\u2010q13.2) in a boy with mental retardation and cleft lip and palate: Another clefting gene locus on proximal 2q?"],"prefix":"10.1002","volume":"111","author":[{"given":"Mariluce","family":"Riegel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"Schinzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,6,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.10.825"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.4.319"},{"key":"e_1_2_6_4_1","first-page":"1796","article-title":"Prenatal detection of a de novo supernumerary chromosome as der(2)(p13q12) in a fetus with abnormal facies, single umbilical artery and diaphragmatic hernia","volume":"53","author":"Grevengood C","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","first-page":"A68","article-title":"Duplication of 2q13\u2009\u2192\u20092q31","volume":"39","author":"Lanman JT","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.1.57"},{"key":"e_1_2_6_7_1","volume-title":"A cytogenetic database","author":"Schinzel A","year":"1994"},{"key":"e_1_2_6_8_1","volume-title":"A catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_6_9_1","first-page":"148","article-title":"Supernumerary chromosome possibly representing segment p11\u2009\u2192\u2009q14 of chromosome 2","volume":"22","author":"Wang HS","year":"1979","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10534","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10534","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T16:08:05Z","timestamp":1697472485000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6,21]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,7,22]]}},"alternative-id":["10.1002\/ajmg.10534"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10534","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6,21]]}}}