Fragile X syndrome

Henoch-Schönlein purpura

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Question

My enquiry is to find out if anyone could give me information on Fragile X or point me in a direction that would be able to help.

Answer

Fragile X syndrome is an inherited defect of the X chromosome that causes mental retardation; in fact it is the commonest cause of mental retardation after Down's syndrome.

The disorder is passed on within families in what is known as X-linked recessive pattern of inheritance, which means that although males are mainly affected, women are carriers of the genetic defect and can pass it on to some of their sons who will be affected and some of their daughters who will become carriers.

About 1 in 1500 men is affected with Fragile X and there is about 1 in 1000 women who are carriers.

Affected males as well as being mentally retarded are usually tall, physically strong, have a prominent nose and jaw, increased ear length, large testes and may be prone to epileptic seizures.

About a third of female carriers exhibit some intellectual impairment. Because there is no treatment for the condition, any woman who has a family history of Fragile X should seek genetic counselling prior to starting a family.

There is also a Fragile X Association that offers support and information for affected families. They would be well worth contacting for further help.

Yours sincerely

The Medical Team

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