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Fragile X syndrome chromosome analysis

Overview Risks Results
Normal Values:
In the laboratory, a number of cells are evaluated, and a percentage is established comparing the number of abnormal cells to the number of normal cells. A normal result would indicate that less than 4% of the cells has a constricted section on the long arm of the X chromosome.
What abnormal results mean:

If more than 4% of the cells evaluated test positive for fragile X chromosomes, fragile X syndrome is indicated. Again, this test is virtually obsolete in practice since molecular analysis has identified the presence of "pre-mutations."

It is usual to repeat a fragile X study performed earlier by chromosomal analysis with the molecular analysis that is now the standard of care.

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