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American College of Medical Genetics and Genomics Populations to test for fragile X syndrome

American College of Medical Genetics and Genomics Populations to test for fragile X syndrome
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
Data from: Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: Diagnostic and carrier testing. Genet Med 2005; 7:584.
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