复旦大学：《医学遗传学 Medical Genetics》课程教学资源（习题与解答）2011-2012（1）answer

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2011-2012(1) MBBS 口A ame Student number section A B C Total scores scores Section A: Choice Questions(20%) 1.C2.B3.C4.D5.A6.A7.C8.A9.D10.D Section B Term explanation short-answer questions(30%) 1. Down syndrome Trisomy 21, Short stature and obesity occurs during adolescence Moderate-to-severe mental retardation occurs, with an intelligence quotient(10)of20-85 2. Philadelphia chromosome Philadelphia chromosome show that most of chromosome 22 has been translocated onto the long arm of chromosome 9. I This translocation, which is found only in tumor cells, indicates that a patient has chronic myelogenous leukemia(CML) 3. Liability The risks of polygene disorders determined by both genes and environmentalfactors

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2011-2012 (1) MBBS □ A Name ： Student Number： section A B C Total scores scores Section A: Choice Questions(20%) 1.C 2.B 3.C 4.D 5.A 6.A 7.C 8.A 9.D 10.D Section B Term explanation & Short-answer questions(30%) 1. Down syndrome Trisomy 21, Short stature and obesity occurs during adolescence. Moderate-to-severe mental retardation occurs, with an intelligence quotient (IQ) of 20-85. 2. Philadelphia chromosome Philadelphia chromosome show that most of chromosome 22 has been translocated onto the long arm of chromosome 9. I This translocation, which is found only in tumor cells, indicates that a patient has chronic myelogenous leukemia (CML). 3. Liability The risks of polygene disorders determined by both genes and environmental factors

4. Explain the Characteristics of genetic disorders population distribution modelof inheritance congenital famili infectious 5. Analyze the pedigree, what inheritance model do you think? why? AAR BXD Section C: Consulting(50%) 1. key points: albinism is ar model 2. Key points: (1) Recurrence risk increases with the number ofaffected children in a family (2) Recurrence risk increases with severity of the defect. A more severely affected parent is more likely to produce an affected child 3)Consanguinity slightly increases the risk for an affected chi (4 f the two sexes have a different probability of being affected, the least likely sex, if affected, is the most likely sex to produce an affected ofspring. 3. Key points: LHON is mitochondrial disease and just be passed down from the females. If the parents have Down syndrome children before, the risk will be higher 4. Key points: XR

4. Explain the Characteristics of genetic disorders population distribution model of inheritance congenital familial infectious 5. Analyze the pedigree，what inheritance model do you think? Why? A AR B XD Section C: Consulting (50%) 1. Key points: albinism is AR model. 2. Key points: (1) Recurrence risk increases with the number of affected children in a family. (2) Recurrence risk increases with severity of the defect. A more severely affected parent is more likely to produce an affected child. (3) Consanguinity slightly increases the risk for an affected child. (4) If the two sexes have a different probability of being affected, the least likely sex, if affected, is the most likely sex to produce an affected offspring. 3. Key points: LHON is mitochondrial disease and just be passed down from the females. If the parents have Down syndrome children before, the risk will be higher. 4. Key points: XR