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A deletion of 7q36.1\u2009\u2192\u200936.3 and duplication of 9p22.3\u2009\u2192\u200923 was detected as a result of an unbalanced translocation of paternal origin. Breakpoint delimitation was achieved with array comparative genomic hybridization assay. Additional multiplex ligation dependent probe amplification (MLPA) analyzes confirmed one copy loss of 7q36.3 region and one copy gain of 9p24.3 region. Patient resultant phenotype is consistent with the already described findings for both 7q deletion and 9p duplication syndromes.<\/jats:p>","DOI":"10.1186\/1755-8166-6-2","type":"journal-article","created":{"date-parts":[[2013,1,28]],"date-time":"2013-01-28T17:15:19Z","timestamp":1359393319000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["7q36 deletion and 9p22 duplication: effects of a double imbalance"],"prefix":"10.1186","volume":"6","author":[{"given":"Karla de Oliveira","family":"Pelegrino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Sugayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana L\u00facia","family":"Catelani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina","family":"Lezirovitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria de Lourdes","family":"Chauffaille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,1,15]]},"reference":[{"key":"153_CR1","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1038\/sj.ejhg.5201595","volume":"14","author":"J Chelly","year":"2006","unstructured":"Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T: Genetics and pathophysiology of mental retardation. 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