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Most reported cases result from malsegregation of a reciprocal translocation leading to a terminal 6q duplication and partial monosomy of another chromosome. Only 11 cases of de novo pure duplication have been reported so far. The breakpoints do not appear to be recurrent, but in most cases they have not been characterized molecularly, precluding genotype\u2013phenotype correlation. We report on an 8\u2010year\u2010old girl with a phenotype consistent with mild 6q duplication syndrome, including characteristic physical findings, mild mental retardation, and joint contractures. She carries a 13\u2009Mb de novo 6q24.2q25.3 duplication, diagnosed by high\u2010resolution karyotype and confirmed by array\u2010CGH. Molecular characterization of the duplicated segment with quantitative PCR showed that the proximal breakpoint is localized within the <jats:italic>UTRN<\/jats:italic> gene, encoding utrophin, the autosomal homologue of dystrophin. We discuss the possible implication of <jats:italic>UTRN<\/jats:italic> in arthrogryposis associated with duplications spanning the 6q23q26 region. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33433","type":"journal-article","created":{"date-parts":[[2010,6,26]],"date-time":"2010-06-26T06:53:40Z","timestamp":1277535220000},"page":"1781-1788","source":"Crossref","is-referenced-by-count":16,"title":["Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting <i>UTRN<\/i> in a patient with 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