BIOD 210 GENETICS Disorders Latest Review Exam Q & A 2024 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 Answe r: 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, st icky 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 Syn drome - D) Trisomy X Answer: B) Triple X Syndrome Rationale: A 'Barr body' is an inactivated X chromosome found in females. Triple X Syndrome, characterized by an extra X chromosome, would present with a Barr body. 5. What is the most common caus e of inherited intellectual disability and autism? - A) Down Syndrome - B) Klinefelter Syndrome - C) Fragile X Syndrome - D) Rett Syndrome Answer: C) Fragile X Syndrome Rationale: Fragile X Syndrome is the most common inherited cause of intellectual disability and is also associated with autism. 6. Which disorder is characterized by the presence of an extra chromosome 21? - A) Patau Syndrome - B) Edwards Syndrome - C) Down Syndrome - D) Turner Syndrome Answer: C) Down Syndrome Rationale: Down Syndrome is caused by trisomy 21, which is the presence of an extra chromosome 21. 7. What is the genetic basis of Marfan Syndrome? - A) Mutation in the FBN1 gene - B) Deletion on chromosome 15 - C) Trisomy 18 - D) Duplication on chromosome 7 Answer: A) Mutation in the FBN1 gene Rationale: Marfan Syndrome is caused by a mutation in the FBN1 gene, which encodes for fibrillin -1, a protein essential for the formation of elastic fibers in connect ive tissue. 8. Which of the following is not a feature of Turner Syndrome? - A) Short stature - B) Webbed neck
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