{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:48:17Z","timestamp":1790977697100,"version":"4.1.0"},"reference-count":239,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>We review the contributions and limitations of genome-wide array-based identification of copy number variants (CNVs) in the clinical diagnostic evaluation of patients with mental retardation (MR) and other brain-related disorders. In unselected MR referrals a causative genomic gain or loss is detected in 14\u201318% of cases. Usually, such CNVs arise de novo, are not found in healthy subjects, and have a major impact on the phenotype by altering the dosage of multiple genes. This high diagnostic yield justifies array-based segmental aneuploidy screening as the initial genetic test in these patients. This also pertains to patients with autism (expected yield about 5\u201310% in nonsyndromic and 10\u201320% in syndromic patients) and schizophrenia (at least 5% yield). CNV studies in idiopathic generalized epilepsy, attention-deficit hyperactivity disorder, major depressive disorder and Tourette syndrome indicate that patients have, on average, a larger CNV burden as compared to controls. Collectively, the CNV studies suggest that a wide spectrum of disease-susceptibility variants exists, most of which are rare (&lt;0.1%) and of variable and usually small effect. Notwithstanding, a rare CNV can have a major impact on the phenotype. Exome sequencing in MR and autism patients revealed de novo mutations in protein coding genes in 60 and 20% of cases, respectively. Therefore, it is likely that arrays will be supplanted by next-generation sequencing methods as the initial and perhaps ultimate diagnostic tool in patients with brain-related disorders, revealing both CNVs and mutations in a single test.<\/jats:p>","DOI":"10.1159\/000332928","type":"journal-article","created":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T14:27:13Z","timestamp":1320157633000},"page":"174-202","source":"Crossref","is-referenced-by-count":89,"title":["Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research"],"prefix":"10.1159","volume":"135","author":[{"given":"R.","family":"Hochstenbach","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.E.","family":"Buizer-Voskamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.A.S.","family":"Vorstman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.A.","family":"Ophoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2011,11,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2Fnrg2346"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1001%2Farchneurol.2010.47"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186%2F1755-8166-3-9"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.437"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2Fnrg2958"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.31773"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2007.055319"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1017%2FS0033291700028099"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.31539"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2004.026955"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.biopsych.2006.07.038"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddn307"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1176%2Fappi.ajp.2009.09071016"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2009.154"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.brainres.2010.11.078"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ejmg.2009.03.006"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.gde.2009.04.004"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.b.31142"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pone.0010887"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.279"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2008.062604"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pgen.1000536"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.schres.2011.03.021"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ejmg.2009.09.002"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.128"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1186%2Fgm102"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1001%2Fjama.285.24.3093"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1101%2Fgr.076166.108"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.biopsych.2008.01.009"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1010-813"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ygeno.2006.12.012"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature08516"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature07458"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.909"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature08248"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.tig.2008.12.002"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2005.030718"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature08979"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddp092"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2009.01169.x"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawp262"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.38.3.145"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddp311"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1038%2Fmp.2009.57"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.1212%2F01.wnl.0000256367.70365.e0"},{"key":"ref46","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1500"},{"key":"ref47","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20581"},{"key":"ref48","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2009.03.010"},{"key":"ref49","doi-asserted-by":"publisher","DOI":"10.1038%2F35103559"},{"key":"ref50","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.mp.4001896"},{"key":"ref51","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00787-009-0076-x"},{"key":"ref52","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.mp.4002049"},{"key":"ref53","doi-asserted-by":"publisher","DOI":"10.1086%2F507471"},{"key":"ref54","doi-asserted-by":"publisher","DOI":"10.1186%2F1471-2164-10-526"},{"key":"ref55","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2009.74"},{"key":"ref56","doi-as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