{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:05:51Z","timestamp":1792047951874,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,4,2]],"date-time":"2008-04-02T00:00:00Z","timestamp":1207094400000},"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":[[2008,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 3\u2010year\u2010old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13\u2009\u2192\u200920qter and highlights the relevance of CGH for the detection of such rearrangements. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32278","type":"journal-article","created":{"date-parts":[[2008,4,2]],"date-time":"2008-04-02T20:19:21Z","timestamp":1207167561000},"page":"1307-1311","source":"Crossref","is-referenced-by-count":12,"title":["Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review"],"prefix":"10.1002","volume":"146A","author":[{"given":"Pierre","family":"Blanc","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laetitia","family":"Gouas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Francannet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Giollant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Vago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Goumy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,4,2]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"433","article-title":"Partial trisomy 20q in a newborn with dextrocardia","volume":"13","author":"Addor MC","year":"2002","journal-title":"Genet Couns"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cyto.990190103"},{"key":"e_1_2_5_4_1","first-page":"223","article-title":"Trisomy 14q\u2010","volume":"11","author":"Fawcett WA","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30877"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03520.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000184969.84280.e1"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.446"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01756.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03466.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10420"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.6.459"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01911.x"},{"key":"e_1_2_5_14_1","first-page":"277","article-title":"Report of a patient with a trisomy of chromosome region 20q11.2\u2009\u2192\u200920q12 and characterization with FISH","volume":"16","author":"Wanderley HY","year":"2005","journal-title":"Genet Couns"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360313"}],"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.32278","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32278","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:34:12Z","timestamp":1697610852000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32278"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,2]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2008,5,15]]}},"alternative-id":["10.1002\/ajmg.a.32278"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32278","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,2]]}}}