Diagnostic tests for fragile X syndrome.

Abstract excerpt

Fragile X syndrome is a common X-linked hereditary disease, characterized by mental retardation, macroorchidism and mild facial abnormalities and is almost always caused by the absence or deficit of the FMR1 protein. In the majority of cases, the disease is associated with an expansion of a CGG repeat, located in the 5' UTR of the FMR1 gene. Diagnostic methods include PCR amplification and Southern blotting,...

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