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Cytogenetic studies revealed an inverted duplication with terminal deletion (inv dup del) of 2q in the patient and a paternal 2qter deletion polymorphism. Microsatellite markers demonstrated that the inv dup del was maternal in origin and intrachromosomal. Intra or interchromosomal rearrangements may cause this aberration either by a U\u2010type exchange (end\u2010to\u2010end fusion), an unequal crossover between inverted repeats (non\u2010allelic homologous recombination: NAHR), or through breakage\u2010fusion\u2010bridge (BFB) cycles leading to a sister chromatid fusion by non\u2010homologous end joining (NHEJ). A high\u2010resolution oligo array\u2010CGH (244\u2009K) defined the breakpoints and did not detect a single copy region with a size exceeding 12.93\u2009Kb in the fusion site. The size of the duplicated segment was 38.75\u2009Mb, extending from 2q33.1 to 2q37.3 and the size of the terminal deletion was 2.85\u2009Mb in 2q37.3. Our results indicate that the inv dup del (2q) is likely a non\u2010recurrent chromosomal rearrangement generated by a NHEJ mechanism. The major clinical characteristics associated with this 2q rearrangement overlap with those commonly found in patients with 2q duplication reported in the literature. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33613","type":"journal-article","created":{"date-parts":[[2010,8,30]],"date-time":"2010-08-30T17:52:16Z","timestamp":1283190736000},"page":"2670-2680","source":"Crossref","is-referenced-by-count":12,"title":["Molecular characterization of a new patient with a non\u2010recurrent inv dup del 2q and review of the mechanisms for this rearrangement"],"prefix":"10.1002","volume":"152A","author":[{"given":"Ascensi\u00f3n","family":"Vera\u2010Carbonell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"L\u00f3pez\u2010Exp\u00f3sito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan 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