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Females that have a partially mutated FMR1 gene (premutation) are at risk for which of the following symptoms?

a) Mild cognitive impairment
b) Severe intellectual disability
c) No symptoms
d) Physical abnormalities

User Dikla
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1 Answer

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Final answer:

Females with a partially mutated FMR1 gene, or premutation, are most likely to experience mild cognitive impairment, alongside potential fertility issues. Severe intellectual disability is more typically linked to a full mutation, while it is also possible for some carriers to exhibit no symptoms.

Step-by-step explanation:

Females with a partially mutated FMR1 gene, also known as a premutation, can have varying symptoms. The FMR1 gene plays a crucial role in the development of cognitive abilities and fertility. Carrying an abnormal number of X chromosomes, which includes the premutation or full mutation of the FMR1 gene, can lead to the inactivation of all but one X chromosome in each of the carrier's cells. This can affect the proper maturation of female ovaries and is related to the development of mild intellectual disabilities and potentially physical issues as well. However, each individual's experience with the premutation can vary widely.

Considering the symptoms listed and the effects of a premutation of the FMR1 gene, the answer is that females with this condition can experience:
a) Mild cognitive impairment. This is because while a premutation may not always result in severe symptoms, it can lead to various degrees of cognitive disruption. Women may also experience issues related to fertility, such as premature ovarian failure (POF).

On the other hand, severe intellectual disability is typically associated with a full mutation of the FMR1 gene, which leads to Fragile X Syndrome. It is also worth noting that some women with the premutation may not show any noticeable symptoms, and the possibility of physical abnormalities is not specifically linked to the premutation of the FMR1 gene.

In conclusion, the correct option in reference to the symptoms females with a partially mutated FMR1 gene (premutation) are at risk for is: a) Mild cognitive impairment.

User Jurik
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