Article
De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.
Gene - 1 Jan 2014
Lin Dar-Shong, Chuang Tzu-Po, Chiang Ming-Fu, Ho Che-Sheng, Hsiao Chung-Der, Huang Yu-Wen, Wu Tsu-Yen, Wu Jer-Yuarn, Chen Yuan-Tsong, Chen Tsai-Chuan, Li Ling-Hui
Abstract excerpt
Xq28 duplications encompassing the methyl CpG binding protein 2 (MECP2) in males exhibit a distinct phenotype, including developmental delay, facial dysmorphism, muscular hypotonia, intellectual disability, poor or absent speech, recurrent infections and early death. The vast majority of affected males inherit the MECP2 duplication from their usually asymptomatic carrier mothers. Only a few cases with Xq28...
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