Diagnosis of Fragile X Syndrome

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG repeat. We present the various alternatives of combinations of probes and enzymes that can be used for the diagnosis of fragile X syndrome. An overview is given of all the different available probes. A different protocol is presented for po...

Establishment of a Nonradioactive Molecular Diagnosis of Fragile-X Syndrome*

253 Abstract: Fragile-X syndrome is a hereditary dynamic mutation disorder, predominantly caused by a large expansion of CGG trinucleotide repeats in the FMR 1 gene leading to methylation and down regulation of transcription of the gene. For the molecular diagnosis of the disease, the repeat locus in FMR 1 gene is primarily detected by Southern blotting with radioactively labeled probes. Unusua...

Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome

The fragile X syndrome.

We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...

Fragile X syndrome.