{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T03:36:07Z","timestamp":1773286567082,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,2,12]],"date-time":"2013-02-12T00:00:00Z","timestamp":1360627200000},"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":[[2013,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>8p23.1 duplication syndrome is a genomic condition with variable phenotype. Isolated 8p23.1 duplication is rare. Here, we report on additional isolated 8p23.1 duplication in a fetus with complete atrioventricular septal defect and right hand preaxial hexadactyly diagnosed by array comparative genomic hybridization (array\u2010CGH). Array\u2010CGH indicated an \u223c1.43\u2009Mb duplication between 8p23.1 olfactory receptor\/defensin repeats (ORDRs) in this case, which contains 27 genes of which 21 are known and 6 are novel, including <jats:italic>GATA4<\/jats:italic> and <jats:italic>SOX7<\/jats:italic> and one micro\u2010RNA gene. In order to better understanding the genotype\u2013phenotype association of 8p23.1 duplications, we summarized the present case and 10 previously reported patients with isolated 8p23.1 duplications between ORDRs and found that minor anomalies (6\/11), congenital heart defect (6\/11), developmental delay (5\/11), and neurodevelopmental problems (5\/11) are recurrent manifestations in 8p23.1 duplication patients. Thus, we suggest that 8p23.1 duplications between ORDRs generally result in clinical phenotypes and the phenotypes vary between patients. Because true duplications and euchromatic variants (EVs) of 8p23.1 are cytogenetically indistinguishable and usually lead to different clinical results, it is necessary to differentiate 8p23.1 duplications from EVs using molecular cytogenetic techniques. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35596","type":"journal-article","created":{"date-parts":[[2013,2,13]],"date-time":"2013-02-13T01:41:17Z","timestamp":1360719677000},"page":"561-565","source":"Crossref","is-referenced-by-count":10,"title":["8p23.1 duplication detected by array\u2010CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly"],"prefix":"10.1002","volume":"161","author":[{"given":"Yanliang","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuming","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Shan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Duan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.13.4.2235"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.6.491"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201475"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201932"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-3-3"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32522"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302330"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.18.5687"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<18::AID-AJMG3>3.0.CO;2-3"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_2_6_12_1","first-page":"419","article-title":"Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters","volume":"36","author":"Gibbons B","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/378157"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32769"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20011115)104:1<79::AID-AJMG1598>3.0.CO;2-T"},{"key":"e_1_2_6_16_1","first-page":"A568","article-title":"Benign variant 8p23.1?","volume":"53","author":"Krasikov N","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199902)19:2<183::AID-PD481>3.0.CO;2-9"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-8-167"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30778"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028787"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.10.769"},{"key":"e_1_2_6_23_1","first-page":"A3","article-title":"Two further cases of variation in band 8p23.1. 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