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We describe the clinical history, physical findings, and available brain imaging studies in three fetuses, two children, and one adult with 6p25 deletions encompassing <jats:italic>FOXC1<\/jats:italic>. Various combinations of ocular and cerebellar malformations were found. In all three fetuses, necropsy including detailed microscopic assessments of the eyes and brains showed ocular anterior segment dysgenesis suggestive of Axenfeld\u2013Rieger anomaly. Five 6p25 deletions were terminal, including two derived from inherited reciprocal translocations; the remaining 6p25 deletion was interstitial. The size and breakpoints of these deletions were characterized using comparative genomic hybridization arrays. All six deletions included <jats:italic>FOXC1<\/jats:italic>. Our data confirm that <jats:italic>FOXC1<\/jats:italic> haploinsufficiency plays a major role in the phenotype of patients with 6p25 deletions. Histopathological features of Axenfeld\u2013Rieger anomaly were clearly identifiable before the beginning of the third\u2010trimester of gestation. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35548","type":"journal-article","created":{"date-parts":[[2012,8,17]],"date-time":"2012-08-17T21:31:14Z","timestamp":1345239074000},"page":"2430-2438","source":"Crossref","is-referenced-by-count":32,"title":["Pre\u2010 and postnatal phenotype of 6p25 deletions involving the <i>FOXC1<\/i> 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