What is fragile X syndrome

March 21st, 2007
   

Fragile X syndrome is a genetic condition involving changes in the long arm of the X chromosome. It causes a range of developmental problems including learning disabilities and mental retardation.Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.

Usually males are more severely affected by this disorder than females. Carrier females typically have a 30 to 40% chance of giving birth to a retarded male and a 15 to 20% chance of having a retarded female.Most males with fragile X have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles (macroorchidism) after puberty.

Fragile X syndrome is the most common inherited cause of mental impairment and the most common known cause of autism. Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.


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