What is the Fragile X full mutation range?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

The full mutation range for Fragile X syndrome is indeed over 200 CGG repeats within the FMR1 gene. This genetic condition is caused by an expansion of the CGG trinucleotide repeat, which can lead to the silencing of the FMR1 gene and results in the symptoms associated with Fragile X syndrome.

In individuals with fewer repeats, specifically those who have 5-44 repeats, they are considered to be in the normal range and are not at risk for the disorder. The range of 45-55 repeats can lead to a pre-mutation status, which may not cause symptoms of Fragile X syndrome but can be associated with other health risks and potentially pass on the expanded repeat to future generations. The expansion of CGG repeats that reaches from 55 to 200 is typically classified as a pre-mutation, which can cause certain health issues, but it is only when the number of repeats exceeds 200 that an individual is classified as having the full mutation.

Therefore, the correct answer indicates the threshold at which Fragile X syndrome manifests, and this understanding is critical for assessing risk factors, providing genetic counseling, and supporting affected families.

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