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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jordancarter 7 months ago

This study guide is clear, well-organized, and covers all the essential topics. The explanations are concise, making complex concepts easier to understand. It could benefit from more practice questions, but overall, it's a great resource for efficient studying. Highly recommend!
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