复旦大学：《医学遗传学 Medical Genetics》课程教学资源（习题与解答）2012-2013（1）- B

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 disease

Shanghai 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

4. analyze the pedigree, what inheritance model do you think? Why? (38岁) ○□○●■■ (23岁) 5. analyze the pedigree, what inheritance model do you think? Why? Section C: Consulting questions(51%) 1. Mr A is a patient of DMD, and his wife has sickle-cell disease Now Mrs a is Pregnant. They are very worry about their baby, and come to see you, the consulter. Mr aask: If our baby will have the diseases? 2. Mr B plan to marry with a woman, but he learned that his fiancee has family history of breast cancer(her mother and aunt ), and mr b himself is

4. analyze the pedigree，what inheritance model do you think? Why? 5. analyze the pedigree，what inheritance model do you think? Why? Section C: Consulting & questions(51%) 1. Mr A is a patient of DMD, and his wife has sickle-cell disease Now Mrs A is Pregnant. They are very worry about their baby, and come to see you, the consulter.Mr A ask: “If our baby will have the diseases? ” 2. Mr B plan to marry with a woman, but he learned that his fiancee has family history of breast cancer (her mother and aunt), and Mr B himself is

a patient of thalassemia. Please consult for them, how about the risk of their future children 3. Mrs C has tow sons and two daughter, now she is pregnant with her 5rd child. Her eldest son has Klinefelter syndrome, and the little daughter has LHON. She worried the fetus, please draw the pedigree of the family and consult for them 4. Describe the clinical features of a multigene (i.e, comp disorder and use diagrams to exp lain how multiple genes can combine to produce different levels of risk of developing the disorder among first-, second and third-degree relatives

a patient of thalassemia. Please consult for them, how about the risk of their future children. 3. Mrs C has tow sons and two daughter, now she is pregnant with her 5 rd child. Her eldest son has Klinefelter syndrome , and the little daughter has LHON. She worried the fetus, please draw the pedigree of the family and consult for them. 4. Describe the clinical features of a multigene (i.e, “complex” disorder) and use diagrams to explain how multiple genes can combine to produce different levels of risk of developing the disorder among first-, second￾and third-degree relatives

Answer sheet Name Student number

Answer sheet Name ： Student Number：