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Array\u2010comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219\u2009kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35351","type":"journal-article","created":{"date-parts":[[2012,5,24]],"date-time":"2012-05-24T18:43:49Z","timestamp":1337885029000},"page":"1676-1679","source":"Crossref","is-referenced-by-count":10,"title":["Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion"],"prefix":"10.1002","volume":"158A","author":[{"given":"Maria Leine","family":"Guion\u2010Almeida","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Sarquis","family":"Jehee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita Santos","family":"Passos\u2010Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseli Maria","family":"Zechi\u2010Ceide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,5,24]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"E79","volume":"56","author":"Ahzad HA","year":"2010","journal-title":"Kobe J Med Sci"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.12.003"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2008.01.087"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00231-2"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30361"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/35017558"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.82.3.290"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199807000-00001"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0420.1996.tb00375.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2004.04.002"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000320113"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30929"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35305"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijms.1.34"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.150"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1979.51.3.0397"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(88)90014-X"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.2051"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33899"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/344695"},{"key":"e_1_2_5_22_1","first-page":"48","article-title":"Sphenoethmoidal encephalomeningocele and midline anomalies of face and brain","volume":"60","author":"Tada M","year":"1985","journal-title":"Hokkaido Igaku Zasshi"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31963"}],"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.35351","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35351","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:56:47Z","timestamp":1697615807000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35351"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,24]]},"references-count":22,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1002\/ajmg.a.35351"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35351","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,24]]}}}