Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS B Section A Term explanation(24%) 1. Creutzfeldt-Jakob disease A kind ofprion disease, infectious disease 2. Patausyndrome Chromosomal disease, XX(Y, 47,+13 3. 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) 4. Incompletely dominant Incomplete dominance occurs when the phenotype ofthe heterozygous genotype is distinct from and often intermediate to the phenotypes ofthe homozygous genotypesShanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS □ B Section A Term explanation (24%) 1. Creutzfeldt－Jakob disease A kind of prion disease, infectious disease. 2. Patau syndrome Chromosomal disease, XX(XY),47,+13 3. 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). 4. Incompletely dominant Incomplete dominance occurs when the phenotype of the heterozygous genotype is distinct from and often intermediate to the phenotypes of the homozygous genotypes