Fragile X syndrome

By: Dustin King

Who gets it?

• There is no specific group who can get the syndrome, but it is often more severe in males than in females because it effects the X chromosome. So because females have two X chromosomes, the effects are lessoned.

• It occurs 1 in 4000 In males and 1 in 8000 females.

• Alternative names include – Martin-Bell syndrome and Marker X syndrome.

Symptoms

• The main symptom of fragile X syndrome is mental retardation.

• Some physical characteristics are-Large body size

-Large forehead or ears with a prominent jaw.

.In some cases, the physical characteristics are prominent enough to identify by looking at the affected person.

Is it deadly?

• No. The disease is not lethal and the people

who have fragile x syndrome live normal life

spans.

Can someone be tested?

• Yes.• A test called polymerase chain reaction (PCR)

can be used to diagnose FXS.• The test can be done at any age.

Treatment.

• There is no specific treatment for FXS, but individuals who have it can be given specific education to help them operate at the highest level they can.

Support groups.

• There are no support groups for fragile x syndrome specifically. There are, however broader support groups do exist to help children and adults effected with FXS, down syndrome, autism, and other disabilities.

• Such groups in our area include-– Camp maple leaf -- a summer camp for kids with

disabilities.– The Penguin Project -- a theater group where children

with disabilities are given a chance at the spotlight.

Other facts.

• It is the most common form of inherited mental impairment.

• It is caused by the repeating DNA segment CGG

• The physical characteristics become more apparent with age.