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Of syndromic cases, 14\u201322% have been associated with chromosomal rearrangements. This report describes a Brazilian boy with syndromic craniosynostosis who also presented with intellectual disability, microcephaly, frontal bossing, bitemporal narrowing, short neck, syndactyly, and cardiac defects. Chromosome banding showed an apparently normal male karyotype. Subsequent chromosomal microarray analysis (CMA) using the Affymetrix CytoScan 750 K Array showed a duplication of 2.1 Mb on chromosome 17q and a deletion of 1.4 Mb on chromosome 20q. The data suggested an unbalanced translocation, which was confirmed by fluorescence in\u2010situ hybridization analysis (FISH). While there are several reports in the literature of chromosome 17q duplication syndrome accompanied by partial monosomies of other chromosomes, this is the first case featuring partial monosomy of 20q. The patient\u0301s phenotype is generally consistent with 17q duplication syndrome, however craniosynostosis has rarely been associated with this chromosomal anomaly. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36844","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T20:55:16Z","timestamp":1416948916000},"page":"412-416","source":"Crossref","is-referenced-by-count":10,"title":["Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis"],"prefix":"10.1002","volume":"167","author":[{"given":"Felipe","family":"Marques","sequence":"first","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Ci\u00eancias Gen\u00f4micas e Biotecnologia Universidade Cat\u00f3lica de Bras\u00edlia, Bras\u00edlia DF Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romina","family":"Heredia","sequence":"additional","affiliation":[{"name":"N\u00facleo de Gen\u00e9tica da Secret\u00e1ria de Sa\u00fade do Distrito Federal Hospital de Apoio DF Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudiner","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"N\u00facleo de Gen\u00e9tica da Secret\u00e1ria de Sa\u00fade do Distrito Federal Hospital de Apoio DF Brazil"},{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas Universidade de Bras\u00edlia Campus Darcy Ribeiro Bras\u00edlia DF Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Terezinha","family":"Cardoso","sequence":"additional","affiliation":[{"name":"N\u00facleo de Gen\u00e9tica da Secret\u00e1ria de Sa\u00fade do Distrito Federal Hospital de Apoio DF Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana","family":"Mazzeu","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Ci\u00eancias Gen\u00f4micas e Biotecnologia Universidade Cat\u00f3lica de Bras\u00edlia, Bras\u00edlia DF Brazil"},{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas Universidade de Bras\u00edlia Campus Darcy Ribeiro Bras\u00edlia DF Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Pogue","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o em Ci\u00eancias Gen\u00f4micas e Biotecnologia Universidade Cat\u00f3lica de Bras\u00edlia, Bras\u00edlia DF Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,11,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199807000-00003"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32208"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-004-0541-x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36155"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2011.03.031"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.057042"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.12.12.5632"},{"key":"e_1_2_7_9_1","first-page":"25","article-title":"Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis","volume":"21","author":"Lukusa T","year":"2010","journal-title":"Genet Couns"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000184974.22399.c0"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.9.727"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1091"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2005.03131.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<87::AID-AJMG16>3.0.CO;2-T"},{"key":"e_1_2_7_15_1","unstructured":"Schinzel A. 2001. 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