Article
Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.
Gene - 10 Sept 2015
Chang Jiazhen, Zhao Lijuan, Chen Chen, Peng Ying, Xia Yan, Tang Guizhi, Bai Ting, Zhang Yanghui, Ma Ruiyu, Guo Ruolan, Mei Libin, Liang Desheng, Cao Qinying, Wu Lingqian
Abstract excerpt
22q11.2 microduplication syndrome was recently described as a new disorder with variable clinical features that ranged from normal to mental retardation and with congenital defects. According to published reports, majority of patients with 22q11.2 duplications inherit these from unaffected parents rather than by de novo mutations, which is different from most microduplication/microdeletion syndromes. In this...
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