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The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype\u2013phenotype correlation. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31588","type":"journal-article","created":{"date-parts":[[2007,1,27]],"date-time":"2007-01-27T01:17:12Z","timestamp":1169860632000},"page":"343-348","source":"Crossref","is-referenced-by-count":16,"title":["Duplication 18q21.31\u2010q22.2"],"prefix":"10.1002","volume":"143A","author":[{"given":"Caterina","family":"Ceccarini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Sinibaldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"De Simone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,1,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1095"},{"key":"e_1_2_6_3_1","first-page":"476","article-title":"Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18","volume":"55","author":"Boghosian\u2010Sell L","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","first-page":"184","article-title":"Familial partial distal 18q (18q22\u201018q23) trisomy","volume":"24","author":"De Muelenaere A","year":"1981","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150209"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295415"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273319"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<348::AID-AJMG14>3.0.CO;2-2"},{"key":"e_1_2_6_9_1","first-page":"45","article-title":"An additional case of partial trisomy 18","volume":"17","author":"Jenkins EC","year":"1974","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.6.453"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31072"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00271173"},{"key":"e_1_2_6_13_1","first-page":"1269","article-title":"Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18","volume":"53","author":"Mewar R","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.6.520"},{"key":"e_1_2_6_15_1","first-page":"586","article-title":"Chronic arthritis in two children with partial deletion of chromosome 18","volume":"14","author":"Petty RE","year":"1987","journal-title":"J Rheumatol"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600508.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00955.x"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030207"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460512"}],"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.31588","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31588","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:38:18Z","timestamp":1697639898000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31588"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1,26]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,2,15]]}},"alternative-id":["10.1002\/ajmg.a.31588"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31588","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,1,26]]}}}