Topic Index - Medical Genetics
Overview of Chromosome Abnormalities
Types of Chromosome Abnormalities
Numerical Abnormalities: Overview of Trisomies and Monosomies
Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
Other Arrangements: Rings and Inversions
How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
Overview of Single Gene Defects
Autosomal Dominant: Marfan Syndrome
Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
X-linked Recessive: Red-Green Color Blindness, Hemophilia A
X-linked Dominant: Incontinentia Pigmenti
The Difference Between a Chromosome Abnormality and a Single Gene Defect
Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
Trinucleotide Repeats: Fragile-X Syndrome
Mitochondrial Inheritance: Leber's Optic Atrophy
Evaluating a Child for Birth Defects
Overview of Newborn Screening for Birth Defects
Medical History and Genetic Testing
Studies for Single Gene Defects: DNA (Direct and Indirect)
Genetic Services: When, Where, How
Identification, Treatment, and Prevention of Birth Defects
Vitamin, Gene, and Enzyme Replacement Therapy
