Article
Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing.
American journal of medical genetics - 15 Jul 1994
Fisch G S, Nelson D L, Snow K, Thibodeau S N, Chalifoux M, Holden J J
Abstract excerpt
Until recently, fragile X [fra(X)] syndrome was diagnosed by cytogenetic techniques and/or linkage analysis. Investigation of the mutation at the molecular level has shown that amplification of a polymorphic trinucleotide repeat (CGG) is diagnostic of this syndrome. Fu et al. [1991] observed that between 6-54 copies of the repeat were associated with alleles found in the general population, whereas 50-200 copies...
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