• Record: found
  • Abstract: found
  • Article: not found

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

Read this article at

      There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.


      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.

      Related collections

      Author and article information



      Comment on this article