Spontaneous Expression Of Fragile Site at Xq27.3 In a Fragile X patient.

ABSTRACT

Fragile site at Xq27.3 is classified as a rare fragile site which is observed only under conditions of folate depletion Here we report a case where fragile site at Xq27.3 was detected in normal RPMI 1640 medium without induction, in the lymphocytes of a patient clinically diagnosed as fragile X patient. At the molecular level both an expansion and methylation of (CGG)n repeat at FMRI was detected.