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Malformations such as congenital diaphragmatic hernia and cleft lip have also been described. There has been considerable interest in mapping the smallest region of overlap for this syndrome in order to identify the critical pathogenic genes. The smallest region of overlap has recently been refined to a region encompassing four genes. Using array comparative genome hybridization (array CGH), we have identified a female with a 590\u2010kB deletion within chromosome1q41q42. This patient's deletion further refines the previously defined region of overlap to a single gene, <jats:italic>FBXO28<\/jats:italic>. We propose that <jats:italic>FBXO28<\/jats:italic> is a possible candidate causative gene contributing to the intellectual disability and seizure phenotype observed in 1q41q42 microdeletion syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36320","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:12:49Z","timestamp":1387483969000},"page":"441-448","source":"Crossref","is-referenced-by-count":25,"title":["Refinement of the critical region of 1q41q42 microdeletion syndrome identifies <i>FBXO28<\/i> as a candidate causative gene for intellectual disability and seizures"],"prefix":"10.1002","volume":"164","author":[{"given":"P.Y. 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