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Recently, array\u2010comparative genomic hybridization (aCGH) and multiplex ligation\u2010dependent probe amplification (MLPA) have been useful tools for the identification and mapping of deletions and duplications at higher resolution and throughput. Smith\u2013Magenis syndrome (SMS) is a multiple congenital anomalies\/mental retardation syndrome caused by deletion or mutation of the retinoic acid induced 1 (<jats:italic>RAI1<\/jats:italic>) gene and is often associated with a chromosome 17p11.2 deletion. We report here on the clinical and molecular analysis of a 10\u2010year\u2010old girl with SMS and moyamoya disease (occlusion of the circle of Willis). We have employed a combination of aCGH, FISH, and MLPA to characterize an \u223c6.3 Mb deletion spanning chromosome region 17p11.2\u2013p13.1 in this patient, with the proximal breakpoint within the <jats:italic>RAI1<\/jats:italic> gene. Further, investigation of the genomic architecture at the breakpoint intervals of this large deletion documented the presence of palindromic repeat elements that could potentially form recombination substrates leading to unequal crossover. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31689","type":"journal-article","created":{"date-parts":[[2007,4,13]],"date-time":"2007-04-13T00:48:08Z","timestamp":1176425288000},"page":"999-1008","source":"Crossref","is-referenced-by-count":18,"title":["Smith\u2013Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)"],"prefix":"10.1002","volume":"143A","author":[{"given":"Santhosh","family":"Girirajan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Mendoza\u2010Londono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher 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