{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:24Z","timestamp":1791353544490,"version":"4.3.1"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T00:00:00Z","timestamp":1424217600000},"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":[[2015,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Isolated interstitial duplications of chromosome band 1q25 are apparently very rare; no patients with detailed molecular and clinical characterization of duplications restricted to this region have been published to date. We report on a 9\u2010year\u2010old girl with mild cognitive deficits, tall stature, macrocephaly and discrete dysmorphic features in whom a de novo interstitial 7.5 Mb duplication of 1q25.1q25.3 was detected by SNP array analysis (arr[hg19] 1q25.1q25.3(173,925,505\u2013181,381,242)x3 dn). The duplicated region was inversely inserted into chromosome band 1q42.2: 46,XX,der(1)(pter\u2192q42.2::q25.3\u2192q25.1::q42.2\u2192qter). Overexpression of one or several of the 87 genes in the duplicated interval was presumably the major causative factor for the clinical manifestations. Reports of additional patients with overlapping duplications will be needed to establish detailed karyotype\u2010phenotype correlations and to gain a better understanding of the underlying pathomechanisms. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36943","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T06:39:36Z","timestamp":1424241576000},"page":"653-656","source":"Crossref","is-referenced-by-count":6,"title":["Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms"],"prefix":"10.1002","volume":"167","author":[{"given":"Martin","family":"Kehrer","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Liehr","sequence":"additional","affiliation":[{"name":"Jena University Hospital Friedrich Schiller University Institute of Human Genetics Jena Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Benkert","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylke","family":"Singer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Grasshoff","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Schaeferhoff","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Bonin","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Weichselbaum","sequence":"additional","affiliation":[{"name":"University Children's Hospital University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10219"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36283"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500106"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0150"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32550"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2011.12.042"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.11.029"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1369\/jhc.2008.950550"}],"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.36943","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36943","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36943","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:48:14Z","timestamp":1696618094000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36943"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,18]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1002\/ajmg.a.36943"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36943","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,18]]}}}