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10 years' experience in fragile X testing among mentally retarded individuals in Greece: a molecular and epidemiological approach.

In vivo (Athens, Greece)

Adolescent, Adult, Aged, Child, Child, Preschool, Female, Fragile X Syndrome, complications, epidemiology, genetics, Greece, Humans, Infant, Intellectual Disability, Male, Middle Aged, Mutation, Trinucleotide Repeats

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      Abstract

      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 mental retardation, 1,733 parents and other family members and 400 normal individuals. Molecular analysis allowed for the identification and characterization of 52 fragile X families confirming the clinical diagnosis in 57 males and 4 females. Sixty-six female carriers (6 mentally retarded) and 4 normal transmitting males were also identified. Four severely retarded males and their mothers carried unmethylated premutations, while a moderately retarded girl had a deletion of approximately equal to 150 bp. Overall sizing of the CGG repeat produced an allele distribution of 6-58 CGG repeats (mean 28-30), similar to that in other Caucasian populations.

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      18712171

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