Duplications of the distal region of the short arm of chromosome 9 are rare, but are associated with learning disabilities and behavioral disturbances. We report in detail the cognitive and language features of a child with a duplication in the 9p24.3 region, arr[hg19] 9p24.3(266,045–459,076)×3. The proband exhibits marked expressive and receptive problems, which affect both structural and functional aspects of language. These problems might result from a severe underlying deficit in working memory. Regarding the molecular causes of the observed symptoms, they might result from the altered expression of selected genes involved in procedural learning, particularly some of components of the SLIT/ROBO/FOXP2 network, strongly related to the development and evolution of language. Dysregulation of specific components of this network can result in turn from an altered interaction between DOCK8, affected by the microduplication, and CDC42, acting as the hub component of the network encompassing language-related genes.
Mol Syndromol

中文翻译：

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语言缺陷与DOCK8的部分重复

9号染色体短臂远端区域的重复很少，但与学习障碍和行为障碍有关。我们详细报告了一个在9p24.3区域重复的孩子的认知和语言特征，arr [hg19] 9p24.3（266,045–459,076）×3。先证者表现出明显的表达和接受问题，影响语言的结构和功能方面。这些问题可能是由于工作记忆严重不足所致。关于观察到的症状的分子原因，它们可能是由参与过程学习的选定基因表达的改变引起的，特别是SLIT / ROBO / FOXP2网络的某些组件，这些与语言的发展和进化密切相关。
摩尔综合症