{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:36:41Z","timestamp":1791081401845,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,25]],"date-time":"2013-07-25T00:00:00Z","timestamp":1374710400000},"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":[[2013,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Microscopically visible rearrangements of chromosome 4p includes the two well known abnormalities: partial trisomy 4p, and deletions of the Wolf\u2013Hirschhorn critical regions 1 and 2 (WHSCR 1 and WHSCR2, respectively), which cause well\u2010defined phenotypes including minor anomalies, and developmental delay\/intellectual disability. In contrast small duplications of 4p are rare but with the advent of microarray techniques a few cases have been reported in recent years. Here we describe a 3\u2009Mb duplication at 4p16.3 segregating with a characteristic phenotype, macrocephaly, speech delay and mild intellectual disability in a three generation family. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36099","type":"journal-article","created":{"date-parts":[[2013,7,25]],"date-time":"2013-07-25T20:37:06Z","timestamp":1374784626000},"page":"2358-2362","source":"Crossref","is-referenced-by-count":12,"title":["Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3\u2010generation family"],"prefix":"10.1002","volume":"161","author":[{"given":"Bitten","family":"Sch\u00f6newolf\u2010Greulich","sequence":"first","affiliation":[{"name":"Genetic Counselling Clinic Kennedy Center Copenhagen University Hospital, Rigshospitalet Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirstine","family":"Ravn","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics Kennedy Center Copenhagen University Hospital, Rigshospitalet Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bente","family":"Hamborg\u2010Petersen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics S\u00f8nderborg Sygehus S\u00f8nderborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Br\u00f8ndum\u2010Nielsen","sequence":"additional","affiliation":[{"name":"Genetic Counselling Clinic Kennedy Center Copenhagen University Hospital, Rigshospitalet Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics Kennedy Center Copenhagen University Hospital, Rigshospitalet Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.4.348-a"},{"key":"e_1_2_6_3_1","first-page":"14","article-title":"Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion","volume":"4","author":"Cooper H","year":"1961","journal-title":"Mamm Chrom Nwsl"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34120"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21636"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.02.004"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp563"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08086"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.9.719"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02029349"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/508433"},{"key":"e_1_2_6_12_1","volume-title":"Wechsler nonverbal scale of ability","author":"Wechsler D","year":"2006"}],"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.36099","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36099","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36099","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T13:54:24Z","timestamp":1695563664000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,25]]},"references-count":11,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1002\/ajmg.a.36099"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36099","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,25]]}}}