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We report on a male patient with SHFM, tetralogy of Fallot and a clinical phenotype suggestive of Angelman syndrome. Using array based genome analysis (3K BACs and 500K SNPs), we identified a de novo deletion of chromosome 19p13.11, confirmed by Fluorescent In Situ Hybridization analysis. The deletion is 0.99 Mb in size and contains 28 genes. The proximal breakpoint of the deletion is in <jats:italic>EPS15L1<\/jats:italic>, which may be involved in vertebrate limb development. Subsequent screening of 21 syndromic and nonsyndromic SHFM patients (<jats:italic>TP73L<\/jats:italic> mutation negative) for rearrangements using Multiplex Ligation\u2010dependent Probe Amplification did not detect other deletions or duplications in chromosome 19. These findings suggest that our patient may have a new contiguous gene syndrome and indicates that SHFM is genetically more heterogeneous than currently known. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32748","type":"journal-article","created":{"date-parts":[[2009,4,7]],"date-time":"2009-04-07T18:48:47Z","timestamp":1239130127000},"page":"975-981","source":"Crossref","is-referenced-by-count":19,"title":["Split hand\u2010foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion\u2014evidence for further heterogeneity?"],"prefix":"10.1002","volume":"149A","author":[{"given":"Emmelien","family":"Aten","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolette","family":"den 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