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Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the <jats:italic>TWIST1<\/jats:italic> gene, detected by Multiplex Ligation Probe\u2010dependent Amplification (MPLA) and array\u2010CGH, was consistent with phenotype of Saethre\u2013Chotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 (<jats:italic>SNX13<\/jats:italic>, <jats:italic>PRPS1L1<\/jats:italic>, <jats:italic>HD9C9<\/jats:italic>, and <jats:italic>FERD3L<\/jats:italic>) and the deletion of six genes (<jats:italic>CACNA2D2<\/jats:italic>, <jats:italic>C3orf18<\/jats:italic>, <jats:italic>HEMK1<\/jats:italic>, <jats:italic>CISH<\/jats:italic>, <jats:italic>MAPKAPK3<\/jats:italic>, and <jats:italic>DOCK3<\/jats:italic>) at 3p21.31. Our case reinforces <jats:italic>FERD3L<\/jats:italic> as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35367","type":"journal-article","created":{"date-parts":[[2012,5,24]],"date-time":"2012-05-24T18:43:44Z","timestamp":1337885024000},"page":"1680-1685","source":"Crossref","is-referenced-by-count":10,"title":["Saethre\u2013Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7"],"prefix":"10.1002","volume":"158A","author":[{"given":"Roseli Maria","family":"Zechi\u2010Ceide","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melina Guerreiro","family":"Rodrigues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Sarquis","family":"Jehee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy Mizue","family":"Kokitsu\u2010Nakata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Passos\u2010Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Leine","family":"Guion\u2010Almeida","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","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10007"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.02.002"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-1012-7"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10400"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.PRS.0000165278.72168.51"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.10.733"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10349"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2007.01363.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1990.tb11477.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.iac.2008.01.005"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.260"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441793"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302122"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0905606"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000066618"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1408"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06096"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2009.07.013"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2010.09.002"},{"key":"e_1_2_5_21_1","unstructured":"Online Mendelian Inheritance in Man OMIM (TM).Johns Hopkins University Baltimore MD. 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