{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T02:21:13Z","timestamp":1792030873376,"version":"4.4.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,12,11]],"date-time":"2002-12-11T00:00:00Z","timestamp":1039564800000},"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":[[2003,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 24\u2010year\u2010old woman with minor facial anomalies, mental retardation, seizures, and partial agenesis of the corpus callosum. Cytogenetic analysis showed a de novo terminal chromosome 1 long arm deletion. FISH with a panel of chromosome 1q42\u2010qter bands\u2010specific BAC and YAC clones located the breakpoint at the 1q42\u2010q43 junction, with monosomy restricted to the 1q43 and 1q44 bands. The changing craniofacial phenotype of this patient with age is described as part of the del(1)(q) syndrome natural history. The patient's features are compared with those of other patients with similar deletions, and variable phenotypic findings due to different deleted chromosomal segments are discussed. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10018","type":"journal-article","created":{"date-parts":[[2003,2,24]],"date-time":"2003-02-24T14:04:51Z","timestamp":1046095491000},"page":"251-254","source":"Crossref","is-referenced-by-count":38,"title":["FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications"],"prefix":"10.1002","volume":"117A","author":[{"given":"M.","family":"Gentile","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Di Carlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Volpe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Pansini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Nanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.C.","family":"Valenzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.L.","family":"Buonadonna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,12,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<118::AID-AJMG6>3.0.CO;2-S"},{"key":"e_1_2_6_3_1","volume-title":"New diagnostic methods in oncology+hematology","author":"Fonatsch C","year":"1998"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03849.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350313"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<396::AID-AJMG17>3.0.CO;2-#"},{"key":"e_1_2_6_7_1","first-page":"167","article-title":"Distal deletion of the long arm of chromosome number 1(q43\u2010qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome","volume":"35","author":"Ioan DM","year":"1992","journal-title":"Ann Genet"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220405"},{"key":"e_1_2_6_9_1","first-page":"455","article-title":"New deletion syndrome: 1q43","volume":"33","author":"Juberg RC","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250324"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280215"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400424"},{"key":"e_1_2_6_13_1","first-page":"154","article-title":"A 1q42 deletion in a Vietnamese infant","volume":"25","author":"Neu RL","year":"1982","journal-title":"Ann Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010101)98:1<103::AID-AJMG1005>3.0.CO;2-N"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957161"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240102"},{"key":"e_1_2_6_17_1","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1542\/peds.77.5.786","article-title":"An unusual ocular finding associated with chromosome 1q deletion syndrome","volume":"77","author":"Wright LL","year":"1986","journal-title":"Pediatrics"}],"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.10018","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10018","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:28:33Z","timestamp":1697596113000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,12,11]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,3,15]]}},"alternative-id":["10.1002\/ajmg.a.10018"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10018","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,12,11]]}}}