{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T19:19:03Z","timestamp":1791141543031,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,8,29]],"date-time":"2002-08-29T00:00:00Z","timestamp":1030579200000},"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":[[2002,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the extremely rare occurrence of a stable dicentric duplication\u2010deletion chromosome 14 in a viable offspring with multiple malformations and developmental delay. This abnormality was derived from a maternal paracentric inversion in the long arm of chromosome 14. Both classical and molecular cytogenetic techniques were used to perform the chromosomal investigation of this structural abnormality. The immunofluorescent labeling of centromeric proteins shows only one functional centromere on the rearranged chromosome 14. The present observation confirms that paracentric inversions may lead to stable recombinant chromosomes. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.10720","type":"journal-article","created":{"date-parts":[[2002,12,2]],"date-time":"2002-12-02T13:52:40Z","timestamp":1038837160000},"page":"333-338","source":"Crossref","is-referenced-by-count":9,"title":["Stable dicentric duplication\u2010deficiency chromosome 14 resulting from crossing\u2010over within a maternal paracentric inversion"],"prefix":"10.1002","volume":"113","author":[{"given":"Genevi\u00e8ve","family":"Lefort","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Blanchet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabia","family":"Belgrade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Rivier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Marie","family":"Chaze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Sarda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Demaille","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Pellestor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,8,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/301863"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb01224.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900120"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030404"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197403"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291594"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302363"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<443::AID-AJMG2>3.0.CO;2-Y"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272986"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.515"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000134155"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550207"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2218527"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.12.2189"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/3024"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590323"},{"key":"e_1_2_5_18_1","first-page":"115","article-title":"A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres","volume":"44","author":"Worsham MJ","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_19_1","first-page":"93","article-title":"Ring chromosome 14 syndrome. 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