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The opposite syndrome (microduplication) has not yet been characterized. Our main objective is the recognition of a new clinical entity - 12q14 microduplication syndrome. - as well as confirming the role of HMGA2 gene in growth regulation.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>Array Comparative Genomic Hybridization (CGH), Karyotype, Fluorescence in situ Hybridization, Quantitative-PCR analysis and Whole exome sequencing (WES) were performed in a girl presenting overgrowth and obesity. Array CGH identified a 1.5\u2009Mb 12q14.3 microduplication involving HMGA2, GRIP1, IRAK3, MSRB3 and TMBIM4 genes. Karyotype and FISH showed that duplication was a de novo insertion of 12q14.3 region on chromosome 9p resulting in an interstitial microduplication. Q-PCR confirmed the duplication only in the proband. WES revealed no pathogenic variants.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>Phenotypic comparison with patients with 12q14 microdeletion syndrome showed a reciprocal presentation, suggesting a phenotypically recognizable 12q14 microduplication syndrome as well as confirming the role of HMGA2 gene in growth regulation.\u00a0It is also indicative that other genes, such as IRAK3 and MSRB3 might have of role in weight gain and obesity.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12920-019-0653-x","type":"journal-article","created":{"date-parts":[[2020,1,3]],"date-time":"2020-01-03T17:02:43Z","timestamp":1578070963000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?"],"prefix":"10.1186","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9225-9076","authenticated-orcid":false,"given":"Sofia","family":"D\u00f3ria","sequence":"first","affiliation":[]},{"given":"Daniela","family":"Alves","sequence":"additional","affiliation":[]},{"given":"Maria Jo\u00e3o","family":"Pinho","sequence":"additional","affiliation":[]},{"given":"Joel","family":"Pinto","sequence":"additional","affiliation":[]},{"given":"Miguel","family":"Le\u00e3o","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2020,1,3]]},"reference":[{"issue":"4","key":"653_CR1","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1136\/jmg.2006.047860","volume":"44","author":"B Menten","year":"2007","unstructured":"Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, et al. 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A case report is not subject to ethics review from our Ethic Committee (The Health Ethics Committee \u2013 CES from S\u00e3o Jo\u00e3o Hospital and Faculty of Medicine of the University of Porto) but all the studies were conducted in accordance with local institutional review board guidelines. Patient privacy and confidentiality has been nevertheless protected, and the patient\u2019s parents signed consent was obtained.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written consent for publication was obtained by the parents\/legal guardians.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"2"}}