1. Which genetic disorder is characterized by the absence of a
chromosome segment on chromosome 5?
- A) Turner Syndrome
- B) Cri-du-chat Syndrome
- C) Down Syndrome
- D) Klinefelter Syndrome
Answer: B) Cri-du-chat Syndrome
Rationale: Cri-du-chat Syndrome is caused by a deletion of a part of
chromosome 5. Patients often have a high-pitched cry that sounds like a
cat, which is where the name of the disorder comes from.
2. What is the inheritance pattern of Huntington's Disease?
- A) Autosomal dominant
- B) Autosomal recessive
- C) X-linked dominant
- D) Mitochondrial
Answer: A) Autosomal dominant
Rationale: Huntington's Disease is an autosomal dominant disorder,
meaning that only one copy of the mutated gene, inherited from one
parent, is necessary for the disease to develop.
3. Which of the following is a common complication of Cystic Fibrosis?
- A) Polycythemia
- B) Pulmonary hypertension
- C) Chronic respiratory infections
- D) Coagulopathy
Answer: C) Chronic respiratory infections
Rationale: Cystic Fibrosis leads to the production of thick, sticky mucus
that can clog the airways and trap bacteria, leading to chronic respiratory
infections.
4. In which genetic disorder do you expect to find a 'Barr body' in female
patients?
- A) Turner Syndrome
- B) Triple X Syndrome
- C) Fragile X Syndrome
- D) Trisomy X
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