Podcast
Questions and Answers
What is the primary cause of Fragile X Syndrome?
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?
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?
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?
What role does the FMR1 gene play in the body?
What specific visual trait is associated with Fragile X Syndrome?
What specific visual trait is associated with Fragile X Syndrome?
Flashcards
Fragile X Syndrome
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
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
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
Physical Features of Fragile X
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Sex Differences in Fragile X
Sex Differences in Fragile X
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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.
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Description
Explore the details of Fragile X Syndrome, including its genetic causes and physical characteristics. Understand the impact of the FMR1 gene mutation and how it affects individuals differently based on gender. This quiz provides insights into this specific type of genetic disorder.
