Diagnosis of FXS was confirmed by Southern Blot analysis in 13 subjects identified through the blood spot screening. DNA was digested with Eco RI and Nru I, and stB 12.3 probes were used (Tassone et al.
2008). The 1 kb ladder markers is show in lane1. Lane 2: normal female control showing a normal unmethylated band (2.8Kb) and normal methylated band (5.2Kb). Lanes 3, 5, 9, 10, and 15: premutation females. Lanes 4, 6, 7, 8, 11, and 12: full mutation females. Lanes 13 and 14: premutation male.