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Two patients with interstitial deletions of 8p23.1 were investigated; one patient showed moderate developmental delay and Ebstein anomaly, and the other showed mild delay and typical atrioventricular septum defect. The precise deletion sizes, 17 and 2.9 Mb, were determined by FISH analyses using BAC clones as probes. The latter deletion was the smallest deletion including <jats:italic>GATA4<\/jats:italic> in the previously reported patients, and the critical regions and genes for clinical manifestation of 8p23 deletion syndrome, including facial anomalies, microcephaly, behavioral abnormality, and developmental delay, were discussed. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32205","type":"journal-article","created":{"date-parts":[[2008,4,4]],"date-time":"2008-04-04T20:17:57Z","timestamp":1207340277000},"page":"1158-1165","source":"Crossref","is-referenced-by-count":37,"title":["Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits"],"prefix":"10.1002","volume":"146A","author":[{"given":"Marco 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