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A SNP\u2010array analysis detected a de novo duplication of 17q23.2, encompassing the <jats:italic>TBX2<\/jats:italic> gene. Animal models argue for a key role of <jats:italic>Tbx2<\/jats:italic> during cardiac and limb development. Accordingly, we hypothesize that the heart malformation and mild digital anomalies found in this patient could be related to <jats:italic>TBX2<\/jats:italic> gene overexpression, suggesting parallel consequences of <jats:italic>TBX2<\/jats:italic> gene dosage imbalances in animals and in humans. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33506","type":"journal-article","created":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T16:18:08Z","timestamp":1279210688000},"page":"2061-2066","source":"Crossref","is-referenced-by-count":21,"title":["<i>TBX2<\/i> gene duplication associated with complex heart defect and skeletal malformations"],"prefix":"10.1002","volume":"152A","author":[{"given":"Francesca 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