IBBIOTECH

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Fragile X Syndrome

The X fragile syndrome is one of the most frequent causes of the hereditary mental retard and the second one with genetic base after the Down syndrome. It is a dominant disease linked to the X chromosome. The cause is an expansion in the area 5´UTR of the gene FMR1. There are 4 alleles: the complete expansion (<200 repetitions) with clinic manifestations, the permuted forms (50-200 repetitions) and intermediate ones (40-50 repetitions) and the normal forms (<45 repetitions).

Children with complete mutations have specific clinic characteristics apart from the metal retard. In the case of the girls having a complete mutation, the phenotype is lighter and the mental retard can result in a limited intellectual coefficient.

In IB Biotech, with a simple blood sample, we determine the exact number of repetitions of the gene FMR1, in order to know the genetic base of the mental retard.

How to send your sample?.