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©2013 UpToDate ® Print Email American College of Medical Genetics: Test these populations for fragile X syndrome Individuals of either sex with mental retardation, developmental delay, or autism, especially if they have: physical or behavioral characteristics of fragile X or family history of fragile X or a relative of either sex with undiagnosed mental retardation Individuals seeking reproductive counseling with family history of fragile X syndrome or family history of undiagnosed mental retardation Fetuses of carrier mothers Affected individuals or relative in whom the diagnosis was made by cytogenetic studies Women with elevated levels of follicle-stimulating hormone, especially with a family history of premature ovarian failure, fragile X syndrome, or a relative of either sex with undiagnosed mental retardation Men or women with late-onset intention tremor or ataxia, especially with a family history of movement disorders, fragile X, or undiagnosed mental retardation Data from: Sherman, S, Pletcher, BA, Driscoll, DA. Fragile X syndrome: diagnostic and carrier testing. Genet Med 2005; 7:584.