{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T07:03:47Z","timestamp":1793084627399,"version":"4.5.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T00:00:00Z","timestamp":1428537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fondo de Investigaciones Sanitarias","award":["PI08\/0648"],"award-info":[{"award-number":["PI08\/0648"]}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"crossref","award":["PI11\/00389"],"award-info":[{"award-number":["PI11\/00389"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100008054","name":"Fundaci\u00f3n Ram\u00f3n Areces","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008054","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>This paper describes the presence of an interstitial pure duplication of 19p13.3 (4.95\u2009Mb) in a patient with intellectual disability studied by array\u2010CGH which was initially considered as a de novo alteration. The discovery of the same chromosomal alteration in a first\u2010degree cousin of this patient led us to investigate the presence of insertional translocations, which were consequently found in three family generations. The same duplication was found in three intellectually disabled patients and among the translocation carrier family members a very high incidence of miscarriages are reported. A review of other published cases has allowed us to find three other patients with a similar pure duplication, all of them sharing some common clinical findings such as intrauterine growth retardation, microcephaly, motor and speech delay, moderate to severe intellectual disability, and dysmorphic features. These findings allow us to suggest the presence of a new microduplication syndrome in chromosomal region 19p13.3. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37046","type":"journal-article","created":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T19:05:40Z","timestamp":1428606340000},"page":"1614-1620","source":"Crossref","is-referenced-by-count":15,"title":["Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Carmen","family":"Orellana","sequence":"first","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal Hospital Universitario y Polit\u00e9cnico La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Rosell\u00f3","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal Hospital Universitario y Polit\u00e9cnico La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Monfort","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal Hospital Universitario y Polit\u00e9cnico La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Mayo","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal Hospital Universitario y Polit\u00e9cnico La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvestre","family":"Oltra","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal Hospital Universitario y Polit\u00e9cnico La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica y Diagn\u00f3stico Prenatal Hospital Universitario y Polit\u00e9cnico La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.2174\/15680266113136660213"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12005"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02399"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36041"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-328X(97)00251-9"},{"key":"e_1_2_6_7_1","first-page":"31","article-title":"Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence","volume":"142","author":"L\u00f3pez\u2010Carrasco A","year":"2014","journal-title":"Med Clin (Barc)"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.261"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.157"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124642"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000320920"}],"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.37046","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37046","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:50:33Z","timestamp":1696593033000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,9]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1002\/ajmg.a.37046"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37046","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,9]]}}}