Understanding Fragile X Syndrome

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Questions and Answers

What is the primary cause of Fragile X Syndrome?

Inheritance of a recessive gene from both parents
Environmental factors affecting genetic expression
A chromosomal abnormality in chromosome 21
A mutation in the FMR1 gene (correct)

Which of the following is NOT a characteristic of Fragile X Syndrome?

Social anxiety disorder (correct)
Prominent jaw
Large ears
Pale blue irises

Why are boys more likely to be significantly affected by Fragile X Syndrome than girls?

Girls develop symptoms at a later stage
Boys have only one X chromosome (correct)
Boys have two X chromosomes
Girls have a stronger immune response to mutations

What role does the FMR1 gene play in the body?

<p>Produces a protein necessary for brain development (C)</p>

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What specific visual trait is associated with Fragile X Syndrome?

<p>Pale blue irises (A)</p>

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Flashcards

Fragile X Syndrome

A genetic disorder caused by a mutation in the FMR1 gene, which is responsible for producing a protein crucial for brain development.

FMR1 gene

The FMR1 gene normally produces a protein vital for brain development. However, a mutation in this gene leads to insufficient or no production of this protein.

Mental Retardation in Fragile X

A common characteristic of Fragile X Syndrome is intellectual disability, ranging from mild to severe.

Physical Features of Fragile X

Individuals with Fragile X Syndrome often have distinct physical features, including larger ears, a prominent jawline, and a lighter shade of blue in their irises.

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Sex Differences in Fragile X

Although both males and females can inherit Fragile X Syndrome, males are more likely to exhibit significant symptoms due to having only one X chromosome.

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Study Notes

Fragile X Syndrome

Caused by a mutation in the FMR1 gene (fragile X mental retardation 1)
Normally, the FMR1 gene produces a protein essential for brain development.
A defect in this gene results in insufficient or no protein production.
Characterized by:
- Mental retardation
- Large ears
- Prominent jaw
- Pale blue irises
Boys are more severely affected due to having only one X chromosome. A single fragile X gene on the single X chromosome is likely to have a more significant impact.