Article
10 years' experience in fragile X testing among mentally retarded individuals in Greece: a molecular and epidemiological approach.
In vivo (Athens, Greece) - 1 Jan 2000
Sofocleous C, Kitsiou S, Fryssira H, Kolialexi A, Kalaitzidaki M, Roma E, Tsangaris G Th, Chistofidou C, Metaxotou C, Kanavakis E, Mavrou A
Abstract excerpt
Fragile X syndrome, the second most common genetic cause of mental retardation, is due to the expansion of a trinucleotide repeat (CGG)n within the first exon of the FMR-1 gene. Molecular genetic analysis provides accurate diagnosis and facilitates genetic counselling and prenatal testing. Screening for the fragile X mutation in a sample of 3,888 individuals in Greece is reported: 1,755 children with non-specific...
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