{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:15:05Z","timestamp":1791206105191,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,22]],"date-time":"2013-05-22T00:00:00Z","timestamp":1369180800000},"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":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>We report on three males with de novo overlapping 7.5, 9.8, and 10\u2009Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display common clinical features including metopic ridging\/trigonocephaly, developmental delay, epicanthal folds, and short hands. The duplication comprised the <jats:italic>ASXL1<\/jats:italic> gene, in which de novo heterozygous nonsense or truncating mutations have recently been reported in patients with Borhing\u2013Opitz syndrome. Because of craniofacial features in common with Borhing\u2013Opitz syndrome, in particular metopic ridging\/trigonocephaly, we suggest that duplication of <jats:italic>ASXL1<\/jats:italic> contributes to the phenotype. These observations suggest a novel microduplication syndrome, and reporting of additional patients with molecular characterization will allow more detailed genotype\u2013phenotype correlations. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35970","type":"journal-article","created":{"date-parts":[[2013,5,22]],"date-time":"2013-05-22T21:21:54Z","timestamp":1369257714000},"page":"1594-1598","source":"Crossref","is-referenced-by-count":18,"title":["Delineation of a new chromosome 20q11.2 duplication syndrome including the <i>ASXL1<\/i> gene"],"prefix":"10.1002","volume":"161","author":[{"given":"Magali","family":"Avila","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares \u2018Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est\u2019 H\u00f4pital d'Enfants, CHU Dijon France"},{"name":"Service de P\u00e9diatrie 1 H\u00f4pital d'Enfants, CHU Dijon 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Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mondher","family":"Chouchane","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie 1 H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin\u2010Robinet","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares \u2018Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est\u2019 H\u00f4pital d'Enfants, CHU Dijon France"},{"name":"EA 4271 GAD \u00abG\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement\u00bb, IFR 100, Sant\u00e9 STIC Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Masurel","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares \u2018Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est\u2019 H\u00f4pital d'Enfants, CHU Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Laure","family":"Mosca\u2010Boidron","sequence":"additional","affiliation":[{"name":"Laboratoire de Cytog\u00e9n\u00e9tique Plateau Technique de Biologie, CHU Dijon France"},{"name":"EA 4271 GAD \u00abG\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement\u00bb, IFR 100, Sant\u00e9 STIC Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Callier","sequence":"additional","affiliation":[{"name":"Laboratoire de Cytog\u00e9n\u00e9tique Plateau Technique de Biologie, CHU Dijon France"},{"name":"EA 4271 GAD \u00abG\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement\u00bb, IFR 100, Sant\u00e9 STIC Universit\u00e9 de Bourgogne Dijon 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