Fragile X Syndrome Priya Sankaran

Info about disorder Exact name of gene: FMRP FMRP is made in the testicles and the brain. If it is not produced enough, then the person will be diagnosed with fragile X syndrome, and this syndrome causes many problems in the brain and deformations in the body.

Symptoms Late development, walking, crawling, etc. Hand clapping or hand biting Restless or impulsive behavior Mental Retardation, Speech delay Avoiding eye contact Flat feet Large body Long face Soft skin Flexible joints

Inheritance This is a sex-linked disease that is caused by the X chromosome. In this case, there is a multiplication of part of the genetic information which is a tri-nucleotide repeat disorder. It can be inherited even without a parent as the carrier of this syndrome, but generally one of the parents is a carrier of the disease.

Impact on normal life This disease shares some of the symptoms as autism, and it has some other symptoms. It cannot be cured, but it can be watched with good training and education. This syndrome is very common so many different types of ways of teaching and parenting have been discovered specifically for this problem. Behavioral therapy is also suggested.

For more information: http://www.fragilex.org/ http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/

Interesting Facts: This syndrome is much more common in boys than in girls because boys only have one X chromosome. 1 in every 4000 males are born with Fragile X Syndrome. This syndrome cannot be cured, only controlled.

Works Cited http://www.fragilex.org/html/fmrp.htm http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/ http://en.wikipedia.org/wiki/Fragile_X_syndrome http://www.medicinenet.com/fragile_x_syndrome/article.htm