{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:07:25Z","timestamp":1777370845542,"version":"3.51.4"},"reference-count":14,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"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":[[2014]]},"abstract":"<jats:p>Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3\u2009cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400\u2009K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a<jats:italic>de novo<\/jats:italic>suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband\u2019s phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient\u2019s unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.<\/jats:p>","DOI":"10.1155\/2014\/264947","type":"journal-article","created":{"date-parts":[[2014,6,2]],"date-time":"2014-06-02T22:35:39Z","timestamp":1401748539000},"page":"1-6","source":"Crossref","is-referenced-by-count":9,"title":["Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features"],"prefix":"10.1155","volume":"2014","author":[{"given":"Jennifer L.","family":"Roberts","sequence":"first","affiliation":[{"name":"The University of Kansas Medical Center, Kansas City, KS 66160, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie K.","family":"Gandomi","sequence":"additional","affiliation":[{"name":"Ambry Genetics, Aliso Viejo, CA 92656, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Parra","sequence":"additional","affiliation":[{"name":"Ambry Genetics, Aliso Viejo, CA 92656, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ira","family":"Lu","sequence":"additional","affiliation":[{"name":"Ambry Genetics, Aliso Viejo, CA 92656, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chia-Ling","family":"Gau","sequence":"additional","affiliation":[{"name":"Ambry Genetics, Aliso Viejo, CA 92656, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majed","family":"Dasouki","sequence":"additional","affiliation":[{"name":"The University of Kansas Medical Center, Kansas City, KS 66160, USA"},{"name":"King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[{"name":"The University of Kansas Medical Center, Kansas City, KS 66160, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"5","doi-asserted-by":"publisher","DOI":"10.1159\/000335344"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35520"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2369-13-27"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfq380"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.174"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.12.005"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-3-13"},{"key":"13","year":"2013"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E03-03-0193"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.4605"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0274"},{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneuroim.2010.10.025"},{"key":"14","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.gene.2014.01.050","volume":"538","year":"2014","journal-title":"Gene"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.289pe59"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/264947.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/264947.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/264947.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T14:14:43Z","timestamp":1498140883000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2014\/264947\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":14,"alternative-id":["264947","264947"],"URL":"https:\/\/doi.org\/10.1155\/2014\/264947","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}