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We report on the detailed clinical, cytogenetic, and molecular characterization of two triplications, one de novo involving chromosome 18q, the other familial on chromosome Xp. The clinical phenotype of the patient with 18q triplication, very likely due to overexpression of one or more of the genes in the region, consists mainly of facial dysmorphisms and developmental delay. The familial Xp triplication does not cause an increase in the number of copies of any gene and is almost certainly a polymorphism. The rearrangements are actually complex duplications\/triplications. In both patients, their proximal breakpoints are located within complex segmental duplications, one containing the <jats:italic>VCX<\/jats:italic> gene cluster on chromosome Xp, the other the <jats:italic>TCEB3<\/jats:italic> genes on chromosome 18q. A proximal duplicated region is also present in both patients. All junctions we analyzed were formed by non\u2010homologous end joining (NHEJ). The structural features shared between our patients suggest the involvement of a common mechanism in the genesis of interstitial intrachromosomal triplications. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34248","type":"journal-article","created":{"date-parts":[[2011,9,30]],"date-time":"2011-09-30T20:54:03Z","timestamp":1317416043000},"page":"2681-2687","source":"Crossref","is-referenced-by-count":6,"title":["Common structural features characterize interstitial intrachromosomal Xp and 18q triplications"],"prefix":"10.1002","volume":"155","author":[{"given":"Roberto","family":"Giorda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Beri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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