Fragile X syndrome
Alternate Names : Martin-Bell syndrome, Marker X syndrome
Definition
Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.
Overview, Causes, & Risk Factors
Fragile X syndrome is caused by a change in the FMR1 gene. A small section of the gene code (three letters only -- CGG) is repeated on a fragile area of the X chromosome. The more repeats, the more likely there is to be a problem. Normally, the FMR1 gene makes a protein needed for your brain to grow properly. A defect in this gene makes your body produce too little of the protein, or none at all.
Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. You can have Fragile X syndrome even if your parents do not have it.
|
