Article
Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes.
Human heredity - 1 Jan 2000
Gurling H M, Bolton P F, Vincent J, Melmer G, Rutter M
Abstract excerpt
We undertook molecular and cytogenetic analyses in 25 families multiplex for autism and related disorders. Three of the multiplex families exhibited fragile X, and the affected offspring all exhibited CGG triplet repeat insertion mutations in the FMR-1 gene. One of these families contained an affected pair of monozygotic female twins. Both had similar-sized CGG triplet repeat expansions, but different phenotypic...
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