Fragile X syndrome: A Review with special emphasis on molecular genetics

Fragile X syndrome is a genetic disorder, which is due to a mutation in the X-linked FMR1 gene that causes a range of developmental problems including learning disabilities and cognitive impairment or intellectual disability. Males with fragile X syndrome almost always exhibit mental retardation, usually in the moderate range, and often have characteristic physical features and behaviour. Since the mutation is X-linked, males are more severely affected than females.

Prevalence:

In general population Fragile X syndrome occurs in approximately 1 in 4,000 (1:4000) males and 1 in 8,000 (1:8000) females.

Signs and symptoms of Fragile X syndrome:

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