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

A. Historical Background B. Patterns of inheritance C. Genetic mutations D. Prenatal diagnosis

The American Board of Genetic Counseling was established in the early 1990s, and now various types of geneticists, including genetic counselors, medical geneticists, and basic human geneticists, can be certified

吉林大学：《医学遗传学》课程电子教案（PPT课件）基因操作（重组DNA技术、目的基因的获得和检测）

• 重组DNA（分子克隆） • 分子杂交

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