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Genet."],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a boy with excessively wrinkled skin, mild micro\/brachycephaly with mild hydrocephalus and slightly small temporal lobes, apparently low\u2010set ears, retro\/micrognathia and cleft soft palate (Pierre\u2010Robin anomaly), patent ductus arteriosus and foramen ovale, pulmonary hypoplasia, eventration of the left hemidiaphragm, right cryptorchidism, a sacral dimple, flexion contractures of fingers and knees, and equinovarus deformities of both feet. The infant had a <jats:italic>de novo<\/jats:italic> dir dup(1)(pter\u2192 q25::q12\u2192qter). Partial duplications involving proximal 1q have rarely been reported. Furthermore, this is the first case of proximal duplication of chromosome 1q with unequivocal identification using fluorescence in <jats:italic>situ<\/jats:italic> hybridization (FISH) with a chromosome 1 painting probe. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320500106","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:02:24Z","timestamp":1118509344000},"page":"28-31","source":"Crossref","is-referenced-by-count":21,"title":["Confirmation of proximal 1q duplication using fluorescence in situ hybridization"],"prefix":"10.1002","volume":"50","author":[{"given":"Harold","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine J.","family":"Kusyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy M.","family":"Tuck\u2010Muller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose E.","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodney D.","family":"Dorand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wladimir","family":"Wertelecki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340319"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500105"},{"key":"e_1_2_1_4_1","first-page":"33","article-title":"A de novo partial trisomy 1q, in mosaic, due to a 1;9 translocation","volume":"27","author":"Gagnon JA","year":"1984","journal-title":"Ann Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/BF00281010","article-title":"Trisomy of the long arm of human chromosome 1","volume":"25","author":"Norwood TH","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90287-X"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.2.133"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(72)90558-7"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290601"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006250-199011000-00056"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569349"},{"key":"e_1_2_1_12_1","first-page":"191","article-title":"Reduced phenotypic effect of partial trisomy 1q in a X\/1 translocation","volume":"20","author":"Zuffardi O","year":"1977","journal-title":"Ann Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320500106","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320500106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T12:27:30Z","timestamp":1698150450000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320500106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1002\/ajmg.1320500106"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320500106","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}