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Síndrome frágil X: Mutaciones dinámicas y su repercusión en otras enfermedades genéticas

Keywords: fragile x sindrome [genetics], fragile x sindrome [diagnosis], mutation [genetics].

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Abstract:

in this article, it is presented an updated review of the fragile x syndrome, both of their clinical and genetics aspects. it also refers to the impact the mechanisms of this peculiar mutation have had on the explanation of genetic phenomena such as the anticipation, which are characteristic of various diseases, mainly neuromuscular and neurodegenerative diseases. finally, it deals with the present approach not only of the clinical diagnosis of the fragile x syndrome, but also of the cytogenetic and mollecular one and with its repercussion on the prenatal diagnosis.

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