Individuals of either sex with intellectual disability, developmental delay, or autism, especially if they have: |
Physical or behavioral characteristics of fragile X |
Family history of fragile X or a relative of either sex with undiagnosed intellectual disability |
Individuals seeking reproductive counseling with: |
Family history of fragile X syndrome |
Family history of undiagnosed intellectual disability |
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 insufficiency, fragile X syndrome, or a relative of either sex with undiagnosed intellectual disability |
Men or women with late-onset intention tremor or ataxia, especially with a family history of movement disorders, fragile X, or undiagnosed intellectual disability |
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