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Results of genetic studies were normal including FISH for deletion of 22q11, karyotype analysis, fragile X testing, high\u2010resolution comparative genomic hybridization and <jats:italic>SEPT9<\/jats:italic>, <jats:italic>SHH<\/jats:italic> mutation analysis. The syndrome is reminiscent of the infrequently recognized autosomal dominant Schilbach\u2013Rott syndrome. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33095","type":"journal-article","created":{"date-parts":[[2009,11,17]],"date-time":"2009-11-17T01:51:05Z","timestamp":1258422665000},"page":"2700-2705","source":"Crossref","is-referenced-by-count":6,"title":["Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach\u2013Rott syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"Vered","family":"Shkalim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hagit 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