Fragile X Premutation

Everyone is offered a genetic screen called a carrier screening during pregnancy. The carrier screen detects if you are a carrier for 4 to 274 diseases, depending on the type of screen ordered.  Well, one of those screens detects if you have Fragile X premutation.  Fragile X syndrome is caused by CGG repeats on the X chromosome and causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms owing to the fact that the syndrome is inherited in an x-linked fashion. With the premutation, CGG repeats are present, but not enough for the baby to have the syndrome. Check out this episode to learn more about how this is inherited and how it can affect future generations. Download and listen now!See omnystudio.com/listener for privacy information.