{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T13:27:37Z","timestamp":1775309257849,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,8,13]],"date-time":"2014-08-13T00:00:00Z","timestamp":1407888000000},"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":[[2014,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Microduplication of chromosome 17p13.1 is a rarely reported chromosome abnormality associated with neurodevelopmental delays. We describe two unrelated patients with overlapping microduplications of chromosome 17p13.1. The first patient is a 2\u2010year\u2010old male who presented with neurodevelopmental delays and macrocephaly. He was found to have a de novo 788\u2009kb copy gain of 17p13.2p13.1 and a de novo 134\u2009kb copy gain of 17p13.1. These duplications include multiple candidate genes, including <jats:italic>EFNB3<\/jats:italic>, <jats:italic>NLGN2<\/jats:italic>, <jats:italic>DLG4<\/jats:italic>, <jats:italic>GABARAP<\/jats:italic>, and <jats:italic>DULLARD<\/jats:italic>, which may be responsible for neurodevelopmental delays in affected individuals. The second patient is a 29\u2010year\u2010old female with mild intellectual disability and relative macrocephaly. She was found to have a 62.5\u2009kb copy gain of chromosome 17p13.1 that includes the <jats:italic>DLG4<\/jats:italic>, <jats:italic>GABARAP<\/jats:italic>, and <jats:italic>DULLARD<\/jats:italic> genes. The <jats:italic>DLG4<\/jats:italic>, <jats:italic>GABARAP<\/jats:italic>, and <jats:italic>DULLARD<\/jats:italic> genes included in the microduplications of both our patients appear to be candidate genes for neurodevelopmental delays and macrocephaly in individuals with 17p13.1 microduplication syndrome. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36708","type":"journal-article","created":{"date-parts":[[2014,8,13]],"date-time":"2014-08-13T21:59:20Z","timestamp":1407967160000},"page":"2887-2891","source":"Crossref","is-referenced-by-count":14,"title":["Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Kathryn Anne","family":"Mooneyham","sequence":"first","affiliation":[{"name":"College of Medicine Medical University of South Carolina Charleston South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenton R.","family":"Holden","sequence":"additional","affiliation":[{"name":"Neurosciences (Neurology) and Pediatrics Medical University of South Carolina Charleston South Carolina"},{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Cathey","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alka","family":"Dwivedi","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara R.","family":"Dupont","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Lyons","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,8,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.07.045"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32612"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.016"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.279"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0015107"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35553"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36225"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.1"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000218743"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(02)00641-1"},{"key":"e_1_2_5_12_1","first-page":"1278","article-title":"17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor","volume":"152","author":"Schluth\u2010Bolard C","journal-title":"Am J Med Genet A"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.064972"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.073015"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.007"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35508"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3026"}],"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.36708","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36708","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T16:49:28Z","timestamp":1700671768000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36708"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,13]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1002\/ajmg.a.36708"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36708","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,13]]}}}