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How is Fragile X Syndrome caused?

Nearly all cases of Fragile X Syndrome are caused by a mutation in the [FMR1] gene.

What genes are linked?

Fragile X Syndrome is located in the FMR1 gene where a DNA segment, known as the [CGG triplet repeat], is expanded.

The Symptoms of Fragile X Syndrome:

A boy who has the full FMR1 mutation has fragile X syndrome and will have average mental retardation. They have a particular facial appearance, characterized by a large head size, a long face, forehead that sticks out, a chin and protruding ears. To the right you will see a child who has Fragile X Syndrome.

In addition males who have fragile X syndrome have loose joints (joint laxity), and large testes (after puberty).

Affected boys may have [behavioral problem]s such as hyperactivity, hand flapping, hand biting, temper tantrums and autism. Other behaviors in boys after they have reached puberty include poor eye contact, odd speech, problems in impulse control and distractibility. Physical problems that have been seen include eye, orthopedic, heart and skin problems.

Women have mild retardation and difficulty becoming pregnant.

Both men and women may have problems with tremors and poor coordination.

A child who has Fragile X Syndrome.

Who can be effected by Fragile X Syndrome?

Fragile X syndrome is the most common form of [inherited] mental retardation in males and is also a significant cause of mental retardation in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups.

Is there a cure?

There is no specific treatment available for fragile X syndrome. Supportive [therapy] for children who have fragile X syndrome is one thing they do though.

How do you get this disease – is it inherited or random mutation?

This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males experience more [severe] symptoms of the disorder than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. To the left you will see the altered chromosome compared to a normal chromosome.

An example of the Fragile X mutation

Is there any treatment needed?

The children have to go through therapy for speech, walking properly, and behavior.

The links I used to get the information and the pictures: