Article
Genetic cluster of fragile X syndrome in a Colombian district.
Journal of human genetics - 1 Apr 2018
Saldarriaga Wilmar, Forero-Forero Jose Vicente, González-Teshima Laura Yuriko, Fandiño-Losada Andrés, Isaza Carolina, Tovar-Cuevas Jose Rafael, Silva Marisol, Choudhary Nimrah S, Tang Hiu-Tung, Aguilar-Gaxiola Sergio, Hagerman Randi J, Tassone Flora
Abstract excerpt
BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene FMR1 in the general population is 0.2-0.4 per 1000 males and 0.125-0.4 per 1000 females. Population screening for FMR1 expanded alleles has been performed in newborns and in an adult population. However, it has never been carried out in an entire...
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