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）-A

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS 口A ame Student numbe section A B C Total scores scores Section A Term explanation(24%) 1 Prion disease 2. Turner syndrome 3 X Chromosome inactivation 4. Co-dominant inheritance 5. Birth defect 7. LHON(Leber's; Hereditary; Optic; Neuropathy) 8. Comp lex disorders Section B short-answer questions(25%) 1. Explain the classification of genetic diseases 2. Explain the characteristic ofmitochondrial d 3. Describe the symptoms and the genotype of cystic fibrosis

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS □ A Name ： Student Number： section A B C Total scores scores Section A Term explanation (24%) 1. Prion disease 2. Turner syndrome 3 X Chromosome inactivation 4. Co-dominant inheritance 5. Birth defect 6. Oncogene 7. LHON( Leber's; Hereditary; Optic; Neuropathy) 8. Complex disorders Section B Short-answer questions (25%) 1. Explain the classification of genetic diseases 2. Explain the characteristic of mitochondrial disease 3. Describe the symptoms and the genotype of Cystic fibrosis

4. analyze the pedigree, what inheritance model do you think? Why? m○■●[K○○口○C 123 56 101112131115 5. analyze the pedigree, what inheritance model do you think? Why? Section C: Consulting questions(51%) 1. Mr A is 50-year-old, and his wife is 39-year-old. Now Mrs ais Pregnant. Mrs A got some information from website, which shows a woman with age above 35 is easy to have Down syndrome baby. They are very worry about their baby and come to see you the consulter. Mr a ask: If our baby will have some birth defect? 2. Mr B plan to marry with a woman, but he learned that his fiancee has

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 50-year-old, and his wife is 39-year-old. Now Mrs Ais Pregnant. Mrs A got some information from website, which shows a woman with age above 35 is easy to have Down syndrome baby. They are very worry about their baby, and come to see you, the consulter. Mr A ask: “If our baby will have some birth defect? ” 2. Mr B plan to marry with a woman, but he learned that his fiancee has

family history of schizophrenia(her uncle), and Mr b himself is a patient of cpeo. please consult for them how about the risk of their future children 3. Mrs C is pregnant with her 3rd child. Her eldest son, who has hemophilia b died aged 10. She worried the fetus may have hemophilia B. please draw the pedigree of the family and consult for them 4. Describe the clinical features of a"chromosome'' disorder. its effect on the normal human karyotype and one or more methods by which the chromosomal defect can be detected

family history of schizophrenia (her uncle), and Mr B himself is a patient of CPEO. Please consult for them, how about the risk of their future children. 3. Mrs C is pregnant with her 3rd child. Her eldest son, who has hemophilia B died aged 10. She worried the fetus may have hemophilia B, please draw the pedigree of the family and consult for them. 4. Describe the clinical features of a “chromosome” disorder, its effect on the normal human karyotype and one or more methods by which the chromosomal defect can be detected

Answer sheet Name Student number

Answer sheet Name ： Student Number：