A gene mutation that is found on the X chromosome and is the leading genetic cause of autism
Fragile X Syndrome is a genetic disorder that is caused by a gene mutation on the X chromosome. The symptoms frequently include developmental delays, intellectual disabilities, and behavioral issues. Carriers for Fragile X don’t have Fragile X syndrome; however, they do have an increased chance of certain medical issues as adults.
Screening for Fragile X is important, especially for individuals who are pregnant or plan to become pregnant. We spoke with Dr. Tamar Goldwaser, a medical geneticist, to learn more about screening for Fragile X, and Ilana Garber, a Fragile X Syndrome mom. To learn more, go to DiscoverFragileX.com.
