Article
Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: implications for molecular diagnosis of the fragile X syndrome.
Genetic testing - 1 Jan 2000
Tzountzouris J, Kennedy D, Skuterud M, Connolly-Wilson M, Holden J J, Lin C C, Mak-Tam E, Somerville M J, Summers A M, Allingham-Hawkins D J
Abstract excerpt
The Fragile X syndrome is a common form of X-linked mental retardation, affecting approximately 1 in 4,000 males. Since the discovery of the FMR1 gene responsible for the syndrome, molecular, rather than cytogenetic, diagnosis of Fragile X syndrome has become the gold standard. Numerous molecular diagnostic centers worldwide use PCR and Southern blotting to characterize the size of the CGG repeats within the...
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