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Questions and Answers
What color is the square depicted in the image?
Which shape is represented in the image?
What is the absence of color in the square typically referred to as?
If the square were to be filled with another color, which of the following could it not be?
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In terms of color theory, which of the following describes the square best?
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What mutation was identified in the patient's genetic testing?
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Which symptom is NOT associated with cystic fibrosis as described in the content?
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Why might the patient still exhibit symptoms of cystic fibrosis despite only one CFTR mutation being identified?
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What does cystic fibrosis usually require for diagnosis based on CFTR mutations?
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What was the limitation of the genetic testing performed on the patient?
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Study Notes
Patient Symptoms
- Exhibits recurrent respiratory tract infections, sinusitis, pancreatitis, and salty sweat.
- Symptoms align with cystic fibrosis (CF) diagnosis.
Genetic Findings
- Genetic testing identifies a G551D mutation in one CFTR gene allele.
- Typically, CF is diagnosed when both CFTR alleles are mutated.
Diagnosis Challenge
- Only one CFTR mutation detected, despite the presence of classical CF symptoms.
- This indicates the possibility of an undetected second mutation.
Testing Limitations
- The testing utilized a 36-mutation panel, which may not cover all possible CFTR mutations.
- The absence of a second identified mutation suggests it could be outside the tested panel.
Conclusion
- The patient's clinical presentation and the presence of a single G551D mutation raise the likelihood of another unidentified CFTR mutation contributing to the condition.
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Description
This quiz covers the genetic basis of cystic fibrosis, focusing on the CFTR gene mutations and their clinical implications. It highlights the importance of thorough genetic testing in identifying both alleles involved in the disease. Test your knowledge about CF symptoms, mutations, and testing methods.
