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Utilizing high\u2010resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29. The imbalance was present in five individuals in a three generation family with clinical features including mild to moderate mental retardation and microcephaly. The duplicated segment overlaps with and is the genomic counterpart of the recently described microdeletion of 3q29. Both syndromes are proposed to occur by non\u2010allelic homologous recombination between regions of low copy repeats present around the breakpoints. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32190","type":"journal-article","created":{"date-parts":[[2008,2,2]],"date-time":"2008-02-02T00:46:28Z","timestamp":1201913188000},"page":"601-609","source":"Crossref","is-referenced-by-count":72,"title":["3q29 interstitial microduplication: A new syndrome in a three\u2010generation family"],"prefix":"10.1002","volume":"146A","author":[{"given":"Emily C.","family":"Lisi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ada","family":"Hamosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly F.","family":"Doheny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Squibb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Galczynski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George H.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise A.S.","family":"Batista","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/1675"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550111"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31042"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.5.1475-1483.2001"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/302343"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/378818"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620411.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(06)10017-8"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302703"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1853"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000095922"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/340363"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5402306"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00545.x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.032268"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/422703"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.545"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/431653"}],"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.32190","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32190","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T20:04:20Z","timestamp":1699992260000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1002\/ajmg.a.32190"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32190","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2]]}}}