医学遗传学教案及习题_试卷2标准答案

1. General 2. Forms of Birth Defects 3.The cause of birth defects 4. When a baby most vulnerable 5. How detected in advance 6. Spina Bifida 7. Congenital heart defects

1. General 2. Etiology 3. Symptoms and Signs 4. Diagnosis

1. Down syndrome 2. Trisomy 18 3. Patau syndrome 4. cri du cat syndrome 5. Klinefelter syndrome 6. Turner syndrome

1. Biochemical & Genetic abnormalities 2. The Symptoms of Mitochondrial Disease 3. LHON 4. MERRF 5. MELAS 6. Kearns-Sayre Syndrome 7.Mitochondrial Disease Treatment 8. The Prognosis 9. Future Goals

1. molecular disease 2. inborn errors of metabolism

1. factors inducing chromosome aberration 2. chromosomal aberrations

1. chromatin 2.Chomosome 3. Sex chromosome and sex-determination 4. chromosomal polymorphism 5. An International System for Human Cytogenetic Nomenclature

1. Variability and Gene (or Allelic) Frequencies 2. The Hardy-Weinberg Law 3. Factors that Affect Stability of Gene Frequencies

医学遗传学教案及习题_课程试卷2