{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T21:56:52Z","timestamp":1789423012658,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Seoul St. Mary???s Hospital, The Catholic University of Korea","award":["."],"award-info":[{"award-number":["."]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>We describe the fourth reported case of a de novo 2q33.3\u2013q34 interstitial deletion and review the literature in attempt to identify relevant candidate genes. A 15\u2010month\u2010old female patient presented for evaluation with poor eye contact and developmental delay. She had microcephaly and mild dysmorphic features, such as downslanting palpebral fissures, high forehead, small mouth, high palate, and general hypotonia. At 30 months of age, she was referred to the genetic clinic for an evaluation of persistent developmental delay, autistic traits, and Rett\u2010like features, including bruxism and repetitive movement of the left hand. Chromosome analysis revealed 46,XX at the 550 band level. No abnormalities were found on analysis of <jats:italic>MECP2<\/jats:italic> gene for Rett syndrome and a DNA methylation test for Prader\u2013Willi syndrome. An array comparative genomic hybridization analysis revealed a de novo 2q33.3\u2013q34 heterozygous deletion (206,048,173\u2013211,980,867). The deletion was estimated to be 5.9\u2009Mb in size and contained 34 known genes. Candidate genes were identified as <jats:italic>NRP2<\/jats:italic>, <jats:italic>ADAM23<\/jats:italic>, <jats:italic>KLF7<\/jats:italic>, <jats:italic>CREB1<\/jats:italic>, <jats:italic>MAP2<\/jats:italic>, <jats:italic>UNC80<\/jats:italic>, and <jats:italic>LANCL1<\/jats:italic> for the 2q33.3\u2013q34 interstitial deletion. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37119","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:46:59Z","timestamp":1429674419000},"page":"2213-2218","source":"Crossref","is-referenced-by-count":21,"title":["Autistic and Rett\u2010like features associated with 2q33.3\u2013q34 interstitial deletion"],"prefix":"10.1002","volume":"167","author":[{"given":"Dae\u2010Hyun","family":"Jang","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Incheon St. Mary's Hospital The Catholic University of Korea Seoul 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