12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?
作者: Sofia DóriaDaniela AlvesMaria João PinhoJoel PintoMiguel Leão
作者单位: 1Genetics Service, Department of Pathology, Faculty of Medicine, University of Porto, Alameda Professor Hernâni Monteiro, 4200, Porto, Portugal
2Instituto de Investigação e Inovação em Saúde – i3S, Universidade do Porto, Porto, Portugal
3Department of Pediatrics, São João Hospital Centre – CHSJ, Porto, Portugal
4Department of Medical Genetics, São João Hospital Centre, - CHSJ, Porto, Portugal
刊名: BMC Medical Genomics, 2020, Vol.13 (9), pp.264-268
来源数据库: Springer Nature Journal
DOI: 10.1186/s12920-019-0653-x
关键词: 12q14 microduplication12q14 microdeletionOvergrowthObesityHMGA2
原始语种摘要: Abstract(#br)Background(#br)12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. 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. Case presentation(#br)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 Mb 12q14.3 microduplication involving HMGA2, GRIP1, IRAK3, MSRB3 and TMBIM4 genes. Karyotype and FISH showed that duplication...
全文获取路径: Springer Nature  (合作)
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影响因子:3.466 (2012)

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