{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:20:08Z","timestamp":1787062808135,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,2]],"date-time":"2016-02-02T00:00:00Z","timestamp":1454371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001870","name":"Foundation for Polish Science","doi-asserted-by":"publisher","award":["Homing Plus\/2012\u20105\/9 to BAN"],"award-info":[{"award-number":["Homing Plus\/2012\u20105\/9 to BAN"]}],"id":[{"id":"10.13039\/501100001870","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,5]]},"abstract":"\n \n \n Neurodevelopmental disorders have long been associated with chromosomal abnormalities, including microdeletions and microduplications. Submicroscopic 14q11.2 deletions involving the\n CHD8<\/jats:italic>\n and\n SUPT16H<\/jats:italic>\n genes have been reported in patients with developmental delay (DD)\/intellectual disability (ID) or autism spectrum disorders (ASDs) and\/or macrocephaly. Recently, disruptive\n CHD8<\/jats:italic>\n mutations were described in patients with similar phenotypes further showing pivotal role of\n CHD8<\/jats:italic>\n gene in the pathogenesis of DD\/ID or ASDs. We report here the first case of \u223c445\u2009kb de novo microduplication, encompassing the minimal critical 14q11.2 deletion region, in 8\u2010year\u2010old boy showing DD, cognitive impairment and facial dysmorphism. Our results suggest that gain of the chromosomal region 14q11.2 is causative for clinical findings present in the patient. \u00a9 2016 Wiley Periodicals, Inc.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ajmg.a.37579","type":"journal-article","created":{"date-parts":[[2016,2,2]],"date-time":"2016-02-02T07:31:43Z","timestamp":1454398303000},"page":"1325-1329","source":"Crossref","is-referenced-by-count":14,"title":["Novel 14q11.2 microduplication including the\n CHD8<\/i>\n and\n SUPT16H<\/i>\n genes associated with developmental delay"],"prefix":"10.1002","volume":"170","author":[{"given":"Marta","family":"Smyk","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Poluha","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Oncology and Transplantology Children's University Hospital Lublin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilona","family":"Jaszczuk","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Oncology and Transplantology Children's University Hospital Lublin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Bartnik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Bernaciak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"Nowakowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq189"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1085703"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.06.017"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.19.8386-8394.2004"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1831"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.06409-11"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1227764"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp101"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36741"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.03.028"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36200"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00322-08"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050823"}],"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.37579","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37579","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T08:15:44Z","timestamp":1696580144000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,2]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1002\/ajmg.a.37579"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37579","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,2]]}}}