About medical genetics

• Chromosome abnormalities
• Genetic services: when, where, how
• Identification, treatment and prevention of birth defects
• Multifactorial inheritance
• Neurofibromatosis and related disorders
• Non Traditional Inheritance
• Rasopathy disorders
• Single gene defects
• Autosomal dominant: myotonic dystrophy
• Autosomal recessive: cystic fibrosis (CF), sickle cell anemia (SC), Tay Sachs disease
• Overview of single gene defects
• X-linked dominant: incontinentia pigmenti
• X-linked recessive: red-green color blindness, Hemophilia A
• Genetics and genomics support groups
• Teratogens
• The difference between a chromosome abnormality and a single gene defect
• Tuberous sclerosis
• Uses of genetic testing