PT  - JOURNAL ARTICLE
AU  - C. SOFOCLEOUS
AU  - S. KITSIOU
AU  - H. FRYSSIRA
AU  - A. KOLIALEXI
AU  - M. KALAITZIDAKI
AU  - E. ROMA
AU  - G. TH. TSANGARIS
AU  - C. CHISTOFIDOU
AU  - C. METAXOTOU
AU  - E. KANAVAKIS
AU  - A. MAVROU
TI  - 10 Years' Experience in Fragile X Testing Among Mentally Retarded Individuals in Greece: A Molecular and Epidemiological Approach
DP  - 2008 Jul 01
TA  - In Vivo
PG  - 451--455
VI  - 22
IP  - 4
4099  - http://iv.iiarjournals.org/content/22/4/451.short
4100  - http://iv.iiarjournals.org/content/22/4/451.full
SO  - In Vivo2008 Jul 01; 22
AB  - 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 ≈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.