{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T22:47:36Z","timestamp":1776725256711,"version":"3.51.2"},"reference-count":16,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p><jats:italic>Introduction<\/jats:italic>. More than 60 cases of 7p22 duplications and deletions have been reported with over 16 of them occurring without concomitant chromosomal abnormalities.<jats:italic>Patient and Methods<\/jats:italic>. We report a 29-month-old male diagnosed with autism. Whole genome chromosome SNP microarray (REVEAL) demonstrated a 1.3\u2009Mb interstitial duplication of 7p22.1 -&gt;p22.1 arr 7p22.1 (5,436,367\u20136,762,394), the second smallest interstitial 7p duplication reported to date. This interval included 14 OMIM annotated genes (<jats:italic>FBXL18, ACTB, FSCN1, RNF216, OCM, EIF2AK1, AIMP2, PMS2, CYTH3, RAC1, DAGLB, KDELR2, GRID2IP<\/jats:italic>,<jats:italic>and ZNF12<\/jats:italic>).<jats:italic>Results<\/jats:italic>. Our patient presented features similar to previously reported cases with 7p22 duplication, including brachycephaly, prominent ears, cryptorchidism, speech delay, poor eye contact, and outburst of aggressive behavior with autism-like features. Among the genes located in the duplicated segment,<jats:italic>ACTB<\/jats:italic>gene has been proposed as a candidate gene for the alteration of craniofacial development. Overexpression of<jats:italic>RNF216L<\/jats:italic>has been linked to autism. FSCN1 may play a role in neurodevelopmental disease.<jats:italic>Conclusion<\/jats:italic>. Characterization of a possible 7p22.1 Duplication Syndrome has yet to be made. Recognition of the clinical spectrum in patients with a smaller duplication of 7p should prove valuable for determining the minimal critical region, helping delineate a better prediction of outcome and genetic counseling<\/jats:p>","DOI":"10.1155\/2015\/212436","type":"journal-article","created":{"date-parts":[[2015,3,29]],"date-time":"2015-03-29T21:01:05Z","timestamp":1427662865000},"page":"1-6","source":"Crossref","is-referenced-by-count":8,"title":["Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism"],"prefix":"10.1155","volume":"2015","author":[{"given":"Veronica","family":"Goitia","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Driscoll Children\u2019s Hospital, Corpus Christi, TX 78411, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcial","family":"Oquendo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Driscoll Children\u2019s Hospital, Corpus Christi, TX 78411, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Stratton","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Driscoll Children\u2019s Hospital, Corpus Christi, TX 78411, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35300"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31538"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31511"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34180"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19960102)61:1x003C;21::aid-ajmg4x0003e;3.3.co;2-2"},{"issue":"4","key":"6","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<305::AID-AJMG1>3.0.CO;2-B","volume":"86","year":"1999","journal-title":"American Journal of Medical Genetics"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(20000410)91:4x0003C;286::aid-ajmg9x003E;3.0.co;2-2"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.178"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/423894"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-013-1526-7"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36715"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31006"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevImmunol.v32.i1.20"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1242\/dev.077800"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1016\/j.jprot.2011.12.017"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2005.02.027"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/212436.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/212436.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2015\/212436.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T08:14:37Z","timestamp":1498205677000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2015\/212436\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":16,"alternative-id":["212436","212436"],"URL":"https:\/\/doi.org\/10.1155\/2015\/212436","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}