{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T17:55:52Z","timestamp":1765994152681},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,9,24]],"date-time":"2013-09-24T00:00:00Z","timestamp":1379980800000},"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":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Interstitial duplications of the short arm of chromosome 2 have been rarely described. Here, we report on two unrelated patients with overlapping chromosome 2p16\u2009\u2192\u2009p22 de novo microduplications found by SNP\u2010array analysis. The affected individuals were an 8\u2010year\u20103\u2010month\u2010old boy with a direct duplication of approximately 14.6\u2009Mb harboring 63 genes, and a 12\u2010year\u2010old girl with a direct duplication of around 9.6\u2009Mb harboring 48 genes. Both patients have severe growth retardation, delayed bone age, prominent veins on trunk and extremities, total IGF1 level in the low range, mild developmental delay, and facial dysmorphism such as relative macrocephaly, a broad and prominent forehead, and a large anterior fontanelle. Comparison with patients previously reported in the literature and in the DECIPHER 5.1 and ECARUCA databases indicates a common region of interest of around 1.9\u2009Mb responsible for most of the features. Two candidate genes (<jats:italic>EPAS<\/jats:italic> and <jats:italic>RHOQ<\/jats:italic>), may be particularly relevant for the marked growth retardation and developmental delay. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36176","type":"journal-article","created":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T21:53:32Z","timestamp":1381528412000},"page":"3176-3181","source":"Crossref","is-referenced-by-count":7,"title":["Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16\u2009\u2192\u2009p22"],"prefix":"10.1002","volume":"161","author":[{"given":"Anya","family":"Blassnig\u2010Ezeh","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Landeskrankenhaus Feldkirch Academic Teaching Hospital Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Bandelier","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Cliniques universitaires Saint\u2010Luc Universit\u00e9 catholique de Louvain Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Fr\u00fchmesser","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Medical Genetics Molecular and Clinical Pharmacology, Innsbruck Medical University Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Revencu","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Cliniques universitaires Saint\u2010Luc Universit\u00e9 catholique de Louvain Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgit","family":"Krabichler","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Medical Genetics Molecular and Clinical Pharmacology, Innsbruck Medical University Innsbruck 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