Fragile X: Chromosomal disorder affecting mainly men

Fragile X is the most common known inherited cause of developmental disabilities. The name comes from the way the X chromosome looks under a microscope; the tip shows an abnormal gap that appears broken, called a ‘fragile site’.




 The discovery of Fragile X
Fragile X was discovered in the late 1970s. In 1980 it was identified that people presenting with a group of mental and physical characteristics had a chromosomal abnormality. The gene responsible was identified by scientists in 1991.

The incidence of Fragile X
Studies estimate that around one in 2000 males are affected and roughly one in 4000 females of all races and ethnic groups. Studies indicate one in 259 women of all races carry Fragile X and one in 800 men. It is believed that this common genetic has yet to be diagnosed in 80 to 90 per cent of people with the syndrome.

Common symptoms of Fragile X
A person with full mutation Fragile X can exhibit a few or a lot of symptoms associated with this syndrome. They include:

Intellectual impairment ranging from no abnormality to mild learning difficulties, to severe learning disabilities (also known as severe mental retardation, severe mental handicap

Attention problems such as problems concentrating on a task.

Hyperactivity (overactive behavior).

Autistic like experiences and behaviors, social anxiety, hand flapping, biting, gaze aversion.

Anxiety, inability in coping with change of routine, problems relating to others, apparent over stimulation to external stimuli (e.g. traffic noise)

Unstable moods. Aggression and depression - particularly in adolescence.

Problems with hand/eye coordination

Difficulty with speech and language; echolalia (repeating words and phrases), jocular speech and up and down swings of pitch (litanic speech), palilalia (repeating the end of phrases they themselves have spoken over and over again).

Classic physical characteristics of Fragile X
These physical characteristics of Fragile X are noticable after the onset of puberity include:
Long face with a prominent jaw, prominent ears, large testicles, mostly after puberty.
People with Fragile X also are more prone to certain diseases. These include connective tissue problems, e.g. flat feet, loose joints, congenital hip dislocation, scoliosis (curvature of the spine), mitral valve prolapsed (heart valve), eye problems such as strabismus and squints.