{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:36:15Z","timestamp":1791081375715,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,4,23]],"date-time":"2003-04-23T00:00:00Z","timestamp":1051056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An 8\u2010year\u2010old girl with a combination of clinical manifestations of partial duplication 4p and the Wolf\u2013Hirschhorn syndrome was studied. Chromosomal G\u2010banding and FISH analyses showed a 33.2\u2010Mb segment of inverted duplication at 4p14\u2010p16.3 and a 2.8\u2010Mb segment of deletion at 4p16.3\u2010pter (including the Wolf\u2013Hirschhorn syndrome critical region). The chromosomes of the parents were normal. Her karyotype was thus 46,XX, inv dup del(4)(:p14\u2009\u2192\u2009p16.3::p16.3\u2009\u2192\u2009qter) de novo. The inverted duplication deletion was assumed to have arisen through chromatid breakage at 4p16.3, U\u2010type reunion at the breakpoints to produce a dicentric intermediate, breakage of the dicentric to result in a monocentric, and telomere capture\/healing of the broken end. Olfactory receptor gene clusters at 4p16.3 were ruled out as an intermediary of the duplication deletion process. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20208","type":"journal-article","created":{"date-parts":[[2003,6,4]],"date-time":"2003-06-04T10:07:08Z","timestamp":1054721228000},"page":"123-126","source":"Crossref","is-referenced-by-count":30,"title":["Inv dup del(4)(:p14\u2009\u2192\u2009p16.3::p16.3\u2009\u2192\u2009qter) with manifestations of partial duplication 4p and Wolf\u2010Hirschhorn syndrome"],"prefix":"10.1002","volume":"120A","author":[{"given":"Yuki","family":"Kondoh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takaya","family":"Toma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Harada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ko\u2010ichiro","family":"Yoshiura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tohru","family":"Ohta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuya","family":"Kishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,4,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200509"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<76::AID-AJMG1389>3.0.CO;2-4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1589"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0787-2"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/319506"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/341610"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90252-N"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302998"},{"key":"e_1_2_6_10_1","first-page":"318","article-title":"Inverted low copy repeats and a common 8p23 inversion polymorphism","volume":"69","author":"Matsumoto N","year":"2001","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00216136"},{"key":"e_1_2_6_12_1","first-page":"195","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200498"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000918)94:3<254::AID-AJMG13>3.0.CO;2-7"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20208","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T21:40:16Z","timestamp":1700170816000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,4,23]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,7]]}},"alternative-id":["10.1002\/ajmg.a.20208"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20208","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,4,23]]}}}