{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T11:20:42Z","timestamp":1790162442961,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"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":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>An increasing number of patients with 3p proximal deletions were reported in the previous decade, but the region responsible for the main features such as intellectual disability (ID) and developmental delay is not yet characterized. Here we report on two monozygotic twin brothers of 2 10\/12 years and an 18\u2010year\u2010old man, all three of them displaying severe ID, psychomotoric delay, autistic features, and only mild facial dysmorphisms. Array CGH (aCGH), revealed a 6.55\u2009Mb de novo interstitial deletion of 3p14.1p14.3 in the twin brothers and a 4.76\u2009Mb interstitial deletion of 3p14.1p14.2 in the 18\u2010year\u2010old patient, respectively. We compared the malformation spectrum with previous molecularly well\u2010defined patients in the literature and in the DECIPHER database (Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources; <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/decipher.sanger.ac.uk\/\">http:\/\/decipher.sanger.ac.uk\/<\/jats:ext-link>). In conclusion, the deletion of a region containing 3p14.2 seems to be associated with a relative concise phenotype including ID and developmental delay. Thus, we hypothesize that 3p14.2 is the potential core region in 3p proximal deletions. The knowledge of this potential core region could be helpful in the genetic counselling of patients with 3p proximal deletions, especially concerning their phenotype. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36129","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T03:31:17Z","timestamp":1376623877000},"page":"2634-2640","source":"Crossref","is-referenced-by-count":14,"title":["A 3p interstitial deletion in two monozygotic twin brothers and an 18\u2010year\u2010old man: Further characterization and review"],"prefix":"10.1002","volume":"161","author":[{"given":"Eva","family":"Maria Christina Schwaibold","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Georg August University G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Zoll","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Georg August University G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Burfeind","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Georg August University G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"Hobbiebrunken","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology Georg August University G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wilken","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Sozialp\u00e4diatrisches Zentrum Kassel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudolf","family":"Funke","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Sozialp\u00e4diatrisches Zentrum Kassel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moneef","family":"Shoukier","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics Georg August University G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.96"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.145169"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-10-0258"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/984505"},{"key":"e_1_2_7_6_1","article-title":"Spinocerebellar Ataxia Type 7","author":"Garden 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