Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS 口B ame Student number section A B C Total scores scores Section A Term explanation(24%) 1. Creutzfeldt-Jakob disease 2. Patausyndrome 3. Philadelphia chromosome 4. Incompletely dominant 5. Birth defect 6. MERRF 7. Susceptibility 8. FISH Section B short-answer questions(25%) 1. Explain the classification of Spina bifida and describe the symptoms 2. What is prenatal diagnosis of genetic disorders, give an example 3. Describe the symptoms and the genotype of huntington diseaseShanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS □ B Name ： Student Number： section A B C Total scores scores Section A Term explanation (24%) 1. Creutzfeldt－Jakob disease 2. Patau syndrome 3. Philadelphia chromosome 4. Incompletely dominant 5. Birth defect 6. MERRF 7. Susceptibility 8. FISH Section B Short-answer questions (25%) 1. Explain the classification of Spina bifida and describe the symptoms. 2. What is prenatal diagnosis of genetic disorders, give an example. 3. Describe the symptoms and the genotype of Huntington disease