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1. Indications for prenatal diagnosis 2. Methods for obtaining fetal tissues for prenatal diagnosis 3. Analytical methods 4. New methods for prenatal diagnosis
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A. Historical background B. Phenotypes in populations C.Genes in populations D.Mapping disease genes E. Complex disorders
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1. Genetic Counselors 2. Who Should See One 3. What to Expect During a Visit 4. After Counseling
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1. Gene Chemistry 2. Gene Structure 3. DNA replication 4. Gene Expression
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1.Genes can be mutated in many ways 2. Somatic versus germline mutations 3. Types of mutation effects
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1. REGRESSION TO THE MEAN 2. POLYGENIC INHERITANCE 3. THE MULTIFACTORIAL MODEL 4. THRESHOLD MODEL OF DISEASE 5. SEVERITY OF DISEASE AND RECURRENCE RISK 6. MULTIPLE AFFECTED OFFSPRING AND 7. CONSANGUINITY 8. HALLMARKS OF MULTIFACTORIAL INHERITANCE
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1. Variability and Gene (or Allelic) Frequencies 2. The Hardy-Weinberg Law 3. Factors that Affect Stability of Gene Frequencies
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1. factors inducing chromosome aberration 2. chromosomal aberrations
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2. Inborn Errors of Metabolism Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components
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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
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