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A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5\u2009Mb microdeletion of chromosome region 3q26.32\u20133q26.33 (chr. 3: 178,598,162\u2013182,114,483; hg19) which comprised the <jats:italic>SOX2<\/jats:italic> gene. While <jats:italic>SOX2<\/jats:italic> haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35883","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T20:20:57Z","timestamp":1366748457000},"page":"1421-1424","source":"Crossref","is-referenced-by-count":6,"title":["Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5\u2009Mb deletion of 3q26 encompassing <i>SOX2<\/i>"],"prefix":"10.1002","volume":"161","author":[{"given":"Nabeel J.M.","family":"Salem","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, Technische Universit\u00e4t M\u00fcnchen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, Technische Universit\u00e4t M\u00fcnchen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin\u2010Janine","family":"Heiliger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, Technische Universit\u00e4t M\u00fcnchen Germany"},{"name":"Gyn\u2010Gen\u2010Lehel M\u00fcnchen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart","family":"Hosie","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery St\u00e4dtisches Klinikum Schwabing M\u00fcnchen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, Technische Universit\u00e4t M\u00fcnchen Germany"},{"name":"Institute of Human Genetics Helmholtz Center Munich Neuherberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konrad","family":"Oexle","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, Technische Universit\u00e4t M\u00fcnchen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.71"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2007.117929"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICU.0b013e328349b004"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20471"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0710954105"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.825"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1120"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1200395"},{"key":"e_1_2_6_11_1","volume-title":"Wiedemanns Atlas klinischer Syndrome","author":"Kunze J","year":"2010"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.055178"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)61747-6"},{"key":"e_1_2_6_14_1","first-page":"469","article-title":"CHARGE association: Report of a clinical case with anal atresia and rectovaginal fistula","volume":"19","author":"Rodon\u00f2 A","year":"1997","journal-title":"Pediatr Med Chir"},{"key":"e_1_2_6_15_1","first-page":"273","article-title":"Phenotypic variability of the cat eye syndrome. 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