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Most CDs are caused by mutations within the <jats:italic>SOX9<\/jats:italic> coding region. Several CD patients with balanced chromosome rearrangements involving the 17q24 region have been reported suggesting the presence of <jats:italic>cis<\/jats:italic>\u2010regulatory elements upstream and\/or downstream of the gene. Deletions upstream of <jats:italic>SOX9<\/jats:italic> represent a third mechanism of mutation. To date, a 1.5 Mb de novo deletion in the <jats:italic>SOX9<\/jats:italic> upstream region has been identified in a single 46,XY patient with ACD and DSD. We report here for the first time on a familial ACD caused by an inherited deletion mapping upstream of the <jats:italic>SOX9<\/jats:italic> gene. Using high\u2010density oligoarray comparative genomic hybridization (CGH), we showed that the size of the deletion was 960 kb in the XY\u2010DSD child and her mother, both affected. The deletion lying from 517 kb to 1.477 Mb upstream of <jats:italic>SOX9<\/jats:italic> remove several highly conserved elements and reduce the minimum critical size and therefore the number of highly conserved sequence elements responsible for ACD. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32830","type":"journal-article","created":{"date-parts":[[2009,5,16]],"date-time":"2009-05-16T00:15:39Z","timestamp":1242432939000},"page":"1183-1189","source":"Crossref","is-referenced-by-count":67,"title":["Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of 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