{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T22:14:30Z","timestamp":1771884870856,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2007,3,29]],"date-time":"2007-03-29T00:00:00Z","timestamp":1175126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Constitutional submicroscopic DNA copy number alterations have been shown to cause numerous medical genetic syndromes, and are suspected to occur in a portion of cases for which the causal events remain undiscovered. Array comparative genomic hybridization (array CGH) allows high\u2010throughput, high\u2010resolution genome scanning for DNA dosage aberrations and thus offers an attractive approach for both clinical diagnosis and discovery efforts. Here we assess this capability by applying array CGH to the analysis of copy number alterations in 44 patients with a phenotype of the 22q11.2 deletion syndrome. Twenty\u2010five patients had the deletion on chromosome 22 characteristic of this syndrome as determined by fluorescence in situ hybridization (FISH). The array measurements were in complete concordance with the FISH analysis, supporting their diagnostic utility. These data show that a genome\u2010scanning microarray has the level of sensitivity and specificity required to prospectively interrogate and identify single copy number aberrations in a clinical setting. We demonstrate that such technology is ideally suited for microdeletion syndromes such as 22q11.2. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31662","type":"journal-article","created":{"date-parts":[[2007,3,29]],"date-time":"2007-03-29T18:22:10Z","timestamp":1175192530000},"page":"925-932","source":"Crossref","is-referenced-by-count":6,"title":["Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system"],"prefix":"10.1002","volume":"143A","author":[{"given":"Taku A.","family":"Tokuyasu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip D.","family":"Cotter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Segraves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa E.","family":"Elder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos","family":"Gonzales","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Pinkel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna G.","family":"Albertson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine A.","family":"Rauen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg261"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<425::AID-AJMG17>3.0.CO;2-Q"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10914"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4757-4286-2"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/515508"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/35057192"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-458"},{"key":"e_1_2_5_9_1","first-page":"228","article-title":"Terminal deletion in chromosome region 8p23.1\u20108pter in a child with features of velo\u2010cardio\u2010facial syndrome","volume":"38","author":"Devriendt K","year":"1995","journal-title":"Ann Genet"},{"key":"e_1_2_5_10_1","first-page":"A80","article-title":"Digeorge syndrome with del(4)(q21.3q25): Possibility of the fourth chromosome region responsible for Digeorge syndrome","volume":"51","author":"Fukushima Y","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/378157"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1307"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.210902"},{"key":"e_1_2_5_15_1","first-page":"1063","article-title":"Expressed hypervariable polymorphism of apolipoprotein (a)","volume":"49","author":"Kamboh MI","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00261.x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490112"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/35098574"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1003303"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/2524"},{"key":"e_1_2_5_21_1","unstructured":"R Development Core Team.2004.R: A language and environment for statistical computing. Vienna Austria: R Foundation for Statistical Computing.http:\/\/www.R\u2010project.org."},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10478"},{"key":"e_1_2_5_23_1","volume-title":"Mathematical Statistics and Data Analysis","author":"Rice JA","year":"1995"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200183"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1098918"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.489"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/431652"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017731"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng754"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<336::AID-AJMG11>3.0.CO;2-I"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1562"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/cyto.a.20102"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1369\/jhc.4A6436.2005"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/379977"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14632-6"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1086\/341291"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1086\/427762"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31662","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31662","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:42:18Z","timestamp":1697636538000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,29]]},"references-count":37,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["10.1002\/ajmg.a.31662"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31662","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3,29]]}}}