Molecular diagnosis and genetic counseling for fragile X mental retardation

From: Neurology India | Date: January 1, 2004| Author: Mittal, B; Phadke, S; Pandey, U | Copyright information

Introduction

Fragile X mental retardation (FXMR) is the commonest cause of inherited mental retardation. It is caused by progressive expansion of (CGG)n repeats, in the promoter region of the FMR-1 gene at Xq27.3.[1] FXMR primarily affects males but approximately one-third of the carrier females are also found to be affected, though the severity of mental retardation in females is less than in the males.[2] The fragile X syndrome was the first triplet repeat disorder identified and ser...

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