Fragile X-Syndrome

Got that name because of its fragile appearance on the x-chromosome
Discovered in 1910 by Thomas Morgan
•It is the most common type of mental retardation inherited
•Normal life span for people who inherit the mutation
•Severity can range but it is typically more severe in males than females
•Anxiety and unstable mood with autistic behaviors


Inheritance
•X-linked recessive
•FMRI is mutated from too many copies of CGG in DNA. When repeats occur too much, FMRP (connects the nerve cells) doesn’t function.

•CGG normal repeats is 6-45 times
• Pre-mutation is 55-200 times
• Full mutation is 200-800 times.



CURE
•There is no cure. Genetic counseling is an option before getting pregnant. Speech and development therapies are available to make a person the most normal.

Percentages
1:2000 males 1:800 male carriers
1:4000 females 1:250 female carriers