{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:09:56Z","timestamp":1790798996908,"version":"4.1.0"},"reference-count":30,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size from 1 kb to several megabases. Array based comparative genomic hybridisation (array-CGH) allows detection of an increasing number of genomic alterations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>A series of 46 patients with mental retardation and congenital abnormalities (previously screened for subtelomeric rearrangements) were evaluated for cryptic chromosomal imbalances by array-CGH. This array contains 6465 large-insert BAC\/PAC clones, representing sequences uniformly distributed throughout the human genome. The results were confirmed by alternative techniques.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Four pathogenic rearrangements were detected: two of them were novel, a deletion at 2q31.2 and a duplication at 8q12 band; the other two have been previously reported\u2014a duplication of the Williams\u2013Beuren region and a deletion of 3q29. By adding the subtelomeric alterations previously identified, a total rate of 18% of pathogenic rearrangements was found in the series.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>Based on our results, <jats:italic>ZNF533<\/jats:italic> is the only gene contained in the overlapping region with other deletions at 2q31.2, and it is most probably the fourth zinc-finger gene implied in mental retardation. On the other hand, we propose that the <jats:italic>CHD7<\/jats:italic> gene, associated with CHARGE syndrome by haploinsufficiency, causes a different phenotype by gain-of-dosage.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.057596","type":"journal-article","created":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T20:55:36Z","timestamp":1208292936000},"page":"432-437","source":"Crossref","is-referenced-by-count":48,"title":["Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes"],"prefix":"10.1136","volume":"45","author":[{"given":"S","family":"Monfort","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Rosell\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Orellana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Oltra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Blesa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Kok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Ferrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J C","family":"Cigudosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2008,4,15]]},"reference":[{"key":"2025100511185555000_45.7.432.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971112)72:4<468::AID-AJMG18>3.0.CO;2-P"},{"key":"2025100511185555000_45.7.432.2","doi-asserted-by":"crossref","unstructured":"Schinzel A . Catalogue of unbalanced chromosome aberrations in man , 2nd ed. Berlin: Walter de Gruyter, 2001.","DOI":"10.1023\/A:1014274605979"},{"key":"2025100511185555000_45.7.432.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)03070-6"},{"key":"2025100511185555000_45.7.432.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.lab.2006.01.006"},{"key":"2025100511185555000_45.7.432.5","doi-asserted-by":"publisher","DOI":"10.1086\/379977"},{"key":"2025100511185555000_45.7.432.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017731"},{"key":"2025100511185555000_45.7.432.7","doi-asserted-by":"publisher","DOI":"10.1086\/491719"},{"key":"2025100511185555000_45.7.432.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.032268"},{"key":"2025100511185555000_45.7.432.9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039453"},{"key":"2025100511185555000_45.7.432.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"2025100511185555000_45.7.432.11","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/nature05329","article-title":"Global variation in copy number in the human genome.","volume":"23","author":"Redon","year":"2006","journal-title":"Nature"},{"key":"2025100511185555000_45.7.432.12","doi-asserted-by":"publisher","DOI":"10.1126\/science.1098918"},{"key":"2025100511185555000_45.7.432.13","doi-asserted-by":"publisher","DOI":"10.1086\/510560"},{"key":"2025100511185555000_45.7.432.14","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00792.x"},{"key":"2025100511185555000_45.7.432.15","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1002\/ajmg.a.31608","article-title":"Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci.","volume":"143","author":"Monfort","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025100511185555000_45.7.432.16","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2006.01.018"},{"key":"2025100511185555000_45.7.432.17","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth401"},{"key":"2025100511185555000_45.7.432.18","unstructured":"CIPF. Gene Expression Pattern Analysis Suite v3. 1 Bioinformatics Department \u2013 CIPF http:\/\/dnmad.bioinfo.cipf.es ."},{"key":"2025100511185555000_45.7.432.19","unstructured":"Online Database of Genomic Variants, 2007. http:\/\/projects.tcag.ca\/variation\/ ."},{"key":"2025100511185555000_45.7.432.20","doi-asserted-by":"publisher","DOI":"10.1086\/431653"},{"key":"2025100511185555000_45.7.432.21","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1097\/GIM.0b013e3180986192","article-title":"Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.","volume":"9","author":"Berg","year":"2007","journal-title":"Genet Med"},{"key":"2025100511185555000_45.7.432.22","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1002\/ajmg.a.31602","article-title":"Clinical and molecular characterization of a patient with a 2q31.2\u221232.3 deletion identified by array-CGH.","volume":"143","author":"Mencarelli","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025100511185555000_45.7.432.23","doi-asserted-by":"publisher","DOI":"10.1086\/380309"},{"key":"2025100511185555000_45.7.432.24","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1136\/jmg.2003.016972","article-title":"Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.","volume":"4","author":"Kleefstra","year":"2004","journal-title":"J Med Genet"},{"key":"2025100511185555000_45.7.432.25","doi-asserted-by":"publisher","DOI":"10.1086\/500306"},{"key":"2025100511185555000_45.7.432.26","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"2025100511185555000_45.7.432.27","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O"},{"key":"2025100511185555000_45.7.432.28","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"2025100511185555000_45.7.432.29","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200173"},{"key":"2025100511185555000_45.7.432.30","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100495"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2008.057596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:19:05Z","timestamp":1759688345000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2008.057596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,15]]},"references-count":30,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2008,7,1]]},"published-print":{"date-parts":[[2008,7]]}},"alternative-id":["10.1136\/jmg.2008.057596"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2008.057596","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,15]]}}}