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Site Index
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Medical Genetics Home
Overview of Birth Defects
Chromosome Abnormalities
Overview of Chromosome Abnormalities
Types of Chromosome Abnormalities
Numerical Abnormalities: Overview of Trisomies and Monosomies
Down Syndrome
Trisomy 18 & 13
Turner Syndrome Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
Translocations
Translocation Down Syndrome Other Arrangements: Rings and Inversions Mosaicism
Mosaic Down Syndrome How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism Single Gene Defects
Overview of Single Gene Defects
Autosomal Dominant: Myotonic Dystrophy
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
Multifactorial Inheritance
Teratogens
Examples of Teratogens
Alcohol
Phenytoin (Dilantin)
Varicella Examples of Non-Teratogenic Agents: Spermicides, Acetaminophen, Prenatal Vitamins, Using a Microwave to Cook Food
Identifying Teratogens Non-Traditional Inheritance
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 Testing for Birth Defects
Chromosome Studies: Karyotype, Extended Banding, Fluorescent In Situ Hybridization (FISH)
Studies for Single Gene Defects: DNA (Direct and Indirect)
Biochemical Genetic Testing Uses of Genetic Testing
Genetic Services: When, Where, How
Identification, Treatment, and Prevention of Birth Defects
The Human Genome Project
Vitamin, Gene, and Enzyme Replacement Therapy
Before Your Next Pregnancy
When to Seek Genetic Counseling Support Groups
Related Web sites
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