BACKGROUND 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 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 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. CONCLUSIONS 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. It is also indicative that other genes, such as IRAK3 and MSRB3 might have of role in weight gain and obesity.

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14q14微复制：微缺失综合征的新临床实体吗？

背景技术12q14微缺失综合症的特征是出生体重低，failure壮成长，身材矮小和发育迟缓。相反的综合征（微复制）尚未被表征。我们的主要目标是识别新的临床实体-12q14微复制综合征。-并确认HMGA2基因在生长调节中的作用。病例介绍在出现过度生长和肥胖的女孩中进行了阵列比较基因组杂交（CGH），核型，荧光原位杂交，定量PCR分析和全外显子组测序（WES）。阵列CGH确定了1.5 Mb 12q14.3微复制，涉及HMGA2，GRIP1，IRAK3，MSRB3和TMBIM4基因。核型和FISH表明重复是12q14的从头插入。9p染色体上的3个区域导致间质微复制。Q-PCR仅在先证者中证实了重复。WES没有发现病原体。结论与12q14微缺失综合症患者的表型比较显示出相互的表现，表明在表型上可识别的12q14微复制综合症，并证实了HMGA2基因在生长调节中的作用。这也表明其他基因，例如IRAK3和MSRB3可能与体重增加和肥胖有关。这表明在表型上可识别的12q14微复制综合征，并证实了HMGA2基因在生长调节中的作用。这也表明其他基因，例如IRAK3和MSRB3可能与体重增加和肥胖有关。这表明在表型上可识别的12q14微复制综合征，并证实了HMGA2基因在生长调节中的作用。这也表明其他基因，例如IRAK3和MSRB3可能与体重增加和肥胖有关。