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Genet."],"published-print":{"date-parts":[[1992,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 4\u2010year\u2010old girl with distinctive facial features (redundant skin, bushy eyebrows, narrow palpebral fissures, short, upturned nose, epicanthal folds, and a long upper lip with well\u2010defined philtrum) who has an interstitial deletion of chromosome 14 including band 14q31, designated as 46,XX,del(14) (pter\u2192q24.3::q32.1\u2192qter). Comparison with previously reported patients with deletions of 14q involving band 14q31 suggests that there is a distinctive clinical phenotype associated with this deletion. Our patient had dental abnormalities (3 maxillary and 3 mandibular incisors) not described in the other patients. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440207","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:30Z","timestamp":1118506890000},"page":"153-157","source":"Crossref","is-referenced-by-count":17,"title":["Deletion (14) (q24.3q32.1): Evidence for a distinct clinical phenotype"],"prefix":"10.1002","volume":"44","author":[{"given":"Sue A.","family":"Karnitis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathy","family":"Burns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathy W.","family":"Sudduth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy L.","family":"Golden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William G.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00389468"},{"key":"e_1_2_1_3_1","first-page":"354","article-title":"New variants of \u03b11\u2010antitrypsin: comparison of Pi typing techniques","volume":"33","author":"Cox DW","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","first-page":"601","article-title":"Protease inhibitors in patients with chronic obstructive pulmonary disease: the alpha\u2010anti\u2010trypsin heterozygote controversy","volume":"113","author":"Cox DW","year":"1976","journal-title":"Am Rev Resp Dis"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/297428a0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370409"},{"key":"e_1_2_1_7_1","first-page":"32","article-title":"A case of partial monosomy of 14q","volume":"48","author":"Kawamura G","year":"1985","journal-title":"J Pediatr Pract (Jpn)"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132337"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01560668"},{"key":"e_1_2_1_10_1","first-page":"868","article-title":"Chromosomal localization of the human \u03b11\u2010antitrypsin gene (PI) to 14q31\u201032","volume":"37","author":"Schroeder WT","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","first-page":"237","article-title":"Two patients with interstitial del(14q), one with features of Holt\u2010Oram syndrome. Exclusion mapping of PI (alpha\u20101\u2010antitrypsin)","volume":"27","author":"Turleau C","year":"1984","journal-title":"Ann G\u00e9n\u00e9t (Paris)"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282092"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440207","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440207","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:56:55Z","timestamp":1698069415000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440207"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9,15]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1992,9,15]]}},"alternative-id":["10.1002\/ajmg.1320440207"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440207","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,9,15]]}}}