{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T10:34:16Z","timestamp":1777113256954,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,4,11]],"date-time":"2012-04-11T00:00:00Z","timestamp":1334102400000},"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":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The use of high\u2010resolution microarray technology for investigation of patients with intellectual disability and\/or congenital anomalies provided the unique possibility to identify new microdeletion\/microduplication syndromes and discover the dosage sensitive genes, which are implicated in the manifestation of various genetic conditions. Microduplication of the 7p22.1 region, 1.7\u2009Mb in size, has very recently been reported, representing the smallest interstitional 7p duplication, associated with specific facial features and speech delay. We report on a patient with an even smaller 7p22.1 de novo microduplication, 1\u2009Mb in size, detected in a 14.5\u2010year\u2010old patient with mild intellectual disability and similar facial dysmorphism, including macrocephaly, ocular hypertelorism, low\u2010set ears, and other features. There are 15 RefSeq genes included in this duplication. <jats:italic>ACTB<\/jats:italic> gene is a strong candidate gene for the alteration of craniofacial development. Further cases with similar duplications will contribute to the delineation of a potential new microduplication syndrome of 7p22.1. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35300","type":"journal-article","created":{"date-parts":[[2012,4,12]],"date-time":"2012-04-12T01:21:17Z","timestamp":1334193677000},"page":"1200-1203","source":"Crossref","is-referenced-by-count":18,"title":["Clinical and molecular characterization of a second case of 7p22.1 microduplication"],"prefix":"10.1002","volume":"158A","author":[{"given":"Egle","family":"Preiksaitiene","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jurate","family":"Kasnauskiene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zivile","family":"Ciuladaite","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birute","family":"Tumiene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippos C.","family":"Patsalis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaidutis","family":"Ku\u010dinskas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,4,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33185"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E11-06-0582"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<305::AID-AJMG1>3.0.CO;2-B"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.20732"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34180"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02401.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000410)91:4<286::AID-AJMG9>3.0.CO;2-2"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31538"},{"key":"e_1_2_5_11_1","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1242\/jcs.114.7.1367","article-title":"Specific changes to the mechanism of cell locomotion induced by overexpression of beta\u2010actin","volume":"114","author":"Peckham M","year":"2001","journal-title":"J Cell Sci"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960102)61:1<21::AID-AJMG4>3.0.CO;2-#"}],"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.35300","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35300","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:26:37Z","timestamp":1698711997000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,11]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1002\/ajmg.a.35300"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35300","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,11]]}}}