Belcaro Chiara, Dipresa Savina, Morini Giovanna, Pecile Vanna, Skabar Aldo, Fabretto Antonella
Department of Medical Sciences, University of Trieste, Italy.
Department of Medical Sciences, University of Trieste, Italy.
Gene. 2015 Jul 1;565(1):146-9. doi: 10.1016/j.gene.2015.03.054. Epub 2015 Apr 1.
Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.
神经发育障碍是一组以结构或功能改变为特征的疾病。临床谱可从孤立性智力残疾到更复杂的综合征不等。由于存在大的致病性拷贝数变异（CNV），分子核型分析可解释14%-18%的病例。此外，涉及单基因的小CNV可能导致单基因疾病。在本文中，我们报告了两例通过分子核型分析检测到的、患有孤立性智力残疾的患者发生基因内CTNND2缺失的病例。
