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Information of Fragile X Syndrome
Fragile X syndrome is the second most common specific cause of learning disability after Down's syndrome and is the most common inherited cause. It occurs in up to 1 in 1000 males and in a milder form in 1 in 200 females. It accounts overall for about 10% of those with learning disability, i.e. for about 7% of moderate and 4% of mild disability in males, and about 2.5% of moderate and 3% of mild learning disability in females.
Symptom of Fragile X Syndrome
There are a number of characteristic but somewhat variable clinical features, none of which is diagnostic. These features include enlarged testes, large ears, a long face, and flat feet. Psychological disturbances are said to include abnormalities of speech and. language, autism and other social impairments, and disorders of attention and concentration.
There are increased rates of several psychiatric disorders, including attention-deficit hyperactivity disorder. The inheritance of the condition is unusual arid complex, and has been difficult to unravel. During recent years, there has been a major advance in understanding the molecular genetic basis of the condition, and a gene referred to as FMR-l has been identified. This gene contains an amplified CGG repeat sequence, which constitutes the fragile X anomaly.
The identification of the genetic abnormality makes it possible to identify affected heterozygous females who are clinically and even cytogenetically normal. These women can be advised of the high risk of affected offspring and the need for prenatal testing. Conversely, many women who are at risk of being carriers can be reassured they do not have the condition. Similarly, it is possible to determine whether men are transmitting carriers.
The psychological and psychiatric complications in the syndrome mean that there is a need for regular review of affected people.