{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T02:36:45Z","timestamp":1779244605195,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2010,8,26]],"date-time":"2010-08-26T00:00:00Z","timestamp":1282780800000},"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":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root, and camptodactyly. Analysis of a dense whole genome single\u2010nucleotide polymorphism (SNP) array showed a de novo 3.35\u2009Mb deletion on 2p15\u2010p16.1. In order to study the parental origin of the deletion we analyzed selected SNPs in the deleted area in the proband and her parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Based on the five cases described previously in the literature, we have narrowed the critical region responsible for the 2p15\u2010p16.1 microdeletion syndrome phenotype. The critical region does not include the <jats:italic>VRK2<\/jats:italic> gene that had been speculated to have a role in cortical dysplasia. However, the association of the <jats:italic>VRK2<\/jats:italic> gene with cortical dysplasia remains to be determined, as MRI imaging of the brain and gene content of the 2p15\u201016 deletion becomes established in more patients. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33612","type":"journal-article","created":{"date-parts":[[2010,8,30]],"date-time":"2010-08-30T17:52:05Z","timestamp":1283190725000},"page":"2604-2608","source":"Crossref","is-referenced-by-count":30,"title":["Further characterization of microdeletion syndrome involving 2p15\u2010p16.1"],"prefix":"10.1002","volume":"152A","author":[{"given":"T\u00eamis Maria","family":"F\u00e9lix","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aline Louren\u00e7o","family":"Petrin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa Vieira","family":"Sanseverino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey C.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,8,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.056176"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh663"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1697"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054049"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050914"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000484724"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023671"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.059220"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039453"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045013"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318194ee8f"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017731"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/368294"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/379977"}],"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.33612","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33612","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T05:56:13Z","timestamp":1697003773000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,26]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["10.1002\/ajmg.a.33612"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33612","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,26]]}}}