{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:04:05Z","timestamp":1790809445009,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,1,25]],"date-time":"2010-01-25T00:00:00Z","timestamp":1264377600000},"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":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Presented here is a young girl with a rare interstitial duplication of 8q23.3\u2010q24.21. At birth, unusual facial features led to karyotype analysis with a finding of increased material in 8q. Specific determination of where the extra material came from required comparative genomic hybridization (CGH). The affected girl has dysmorphic facial features including hypertelorism, a wide nasal bridge, retrognathia, hyperopic astigmatism, hirsutism, and developmental delay. The area duplicated includes at least 47 genes including TRPS1 and EXT1. Her features will be described and compared to two similar cases. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33237","type":"journal-article","created":{"date-parts":[[2010,1,25]],"date-time":"2010-01-25T14:31:08Z","timestamp":1264429868000},"page":"459-463","source":"Crossref","is-referenced-by-count":16,"title":["8q23\u2010q24 duplication\u2014further delineation of a rare chromosomal abnormality"],"prefix":"10.1002","volume":"152A","author":[{"given":"Patricia G.","family":"Wheeler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,25]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"384","article-title":"Trisomy of 8q22.3\u223cq23\u2010qter following an unbalanced 1;8 translocation in a boy with multiple anomalies","volume":"46","author":"Ergun MA","year":"2004","journal-title":"Turkish J Pediatr"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284059"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051052"},{"key":"e_1_2_7_5_1","first-page":"968","article-title":"Molecular characterization of de novo secondary trisomy 13","volume":"55","author":"Shaffer LG","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03234.x"}],"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.33237","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33237","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T18:56:13Z","timestamp":1698778573000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,25]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.1002\/ajmg.a.33237"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33237","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,25]]}}}