Fragile XBy: Paul Meyer

Syndromes Names/ Fact

• FMR1• FXS• Fragile X

Fragile X syndrome is the most common inherited cause of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females.

Most likely to get

• Males are most likely to get Fragile x by about half.

• White Americans are most likely.

Location

• It is Located in X chromosomes.• They look like door knobs on the bottom of

the x Chromosome.

Fragile X

Symptoms• Mental retardation• Enlarged testes • High forehead• Enlarged jaw • Long ears• Hand flapping• Hand biting• Poor eye contact• Cluttered speech• Repetitive speech• Lack of speech• Attention problems• Hyperactivity Autism• Educational difficulties

•Enlarged head #in early childhood Projecting jaw •Thick nasal bridge• Large ears• Soft ear cartilage• Pale blue irides Epicanthal folds•Dental crowding •Emotional instability• Long face• Prominent ears• Large testes• Prognathism •Large head circumference •Hyperextensible finger joint•Mitral valve prolapse•Aortic dilatation •Funnel chest

•High-arched palate•Nearsightednes• Flat feet •Abnormal•Dermatoglyphics•Testicular edema•Ovarian cysts•Behavior problems•Developmental•retardation

Long face

Deadly? And Life Span

• No. Fragile X Syndrome is not deadly. People with FXS live a normal life span.

• There is currently no cure for fragile X, There close.• Currently there is no definitive, single treatment for Fragile X.

However, there are a variety of ways to help minimize the symptoms of the condition. Children with Fragile X who receive appropriate education, behavioral or physical therapy, and medication have the best chance of using their individual capabilities and skills. Even those with significant mental retardation can learn to master many self-help skills.

Diagnosis

• Fragile X can be diagnosed at any time, at 1 month, 2 years, 10 years, 40 years or 70 years. It can be diagnosed prior to birth through amnio or cvs. When testing for fragile x it is important that the correct test is ordered, the FMR1 DNA test (Southern Blot with PCR analysis). Chromosome analysis should not be used for Fragile X testing, it has proven unreliable, too many false negatives.

Support Groups

• http://www.fragilex.org/html/ Is a support Group who based there whole site on this dieses. And who collects money from the members and gives it to the families and the research centers.

• Call.. 925-938-9300• Fax .. 925-938-9315

Bibliography

• http://www.healthscout.com/ency/68/599/main.html

• http://www.wrongdiagnosis.com/f/fragile_x_syndrome/symptoms.htm?ktrack=kcplink

• http://www.nichd.nih.gov/publications/pubs/fragileX/sub13.cfm

• http://wiki.answers.com/Q/Is_Fragile_X_syndrome_deadly#ixzz1DgVn3Tzf