{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T02:56:15Z","timestamp":1793069775487,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,9,30]],"date-time":"2011-09-30T00:00:00Z","timestamp":1317340800000},"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":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 7\u2010month\u2010old girl with Smith\u2013Magenis syndrome (SMS) due to a 4.76\u2010Mb deletion of 17p12\u201317p11.2 detected by array comparative genomic hybridization. She was also affected with a left\u2010sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non\u2010isolated cases of diaphragmatic hernia. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34247","type":"journal-article","created":{"date-parts":[[2011,9,30]],"date-time":"2011-09-30T20:54:10Z","timestamp":1317416050000},"page":"2816-2820","source":"Crossref","is-referenced-by-count":7,"title":["Congenital diaphragmatic hernia in Smith\u2013Magenis syndrome: A possible locus at chromosome 17p11.2"],"prefix":"10.1002","volume":"155","author":[{"given":"E.F.","family":"Sanford","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Bermudez\u2010Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.J.B.","family":"Jeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.A.","family":"Rauen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,9,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.048736"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-0521"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1187-6"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5202009"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000313331"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3280895dba"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/513442"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.09.050"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31892"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890310016324"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028787"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200205000-00004"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470893159.ch50"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-142"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32896"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0507832102"}],"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.34247","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34247","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:13:21Z","timestamp":1697613201000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,30]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["10.1002\/ajmg.a.34247"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34247","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,30]]}}}