Pediatric Health Library
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Pediatric Health Library Topics
MEDICAL GENETICS
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Health Topics A-Z
- Autosomal Dominant: Marfan Syndrome
- Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
- Before Your Next Pregnancy
- Biochemical Genetic Testing
- Identification, Treatment, and Prevention of Birth Defects
- Chromosome Abnormalities
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
- The Difference Between a Chromosome Abnormality and a Single Gene Defect
- Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
- Down Syndrome (Trisomy 21)
- Evaluating a Child for Birth Defects
- Examples of Non-Teratogenic Agents
- Examples of Teratogens
- Fetal Alcohol Syndrome
- Trinucleotide Repeats: Fragile-X Syndrome
- Genetic Services: When, Where, How
- Glossary - Medical Genetics
- Home Page - Medical Genetics
- The Human Genome Project
- Identifying Teratogens
- Medical History and Genetic Testing
- Mitochondrial Inheritance: Leber's Optic Atrophy
- Mosaic Down Syndrome
- Mosaicism
- Multifactorial Inheritance
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- Online Resources - Medical Genetics
- Other Arrangements: Rings and Inversions
- Overview of Birth Defects
- Overview of Chromosome Abnormalities
- Overview of Single Gene Defects
- Phenytoin (Dilantin)
- Overview of Newborn Screening for Birth Defects
- Single Gene Defects
- Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
- Studies for Single Gene Defects: DNA (Direct and Indirect)
- Support Groups
- Teratogens
- Testing for Birth Defects
- Topic Index - Medical Genetics
- Translocation Down Syndrome
- Translocations
- Trisomy 18 and 13
- Turner Syndrome
- Types of Chromosome Abnormalities
- Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
- Uses of Genetic Testing
- Varicella
- Vitamin, Gene, and Enzyme Replacement Therapy
- When to Seek Genetic Counseling
- X-linked Dominant: Incontinentia Pigmenti
- X-linked Recessive: Red-Green Color Blindness, Hemophilia A
It is important to remember the health information found on this website is for reference only not intended to replace the advice and guidance of your healthcare provider.
Always seek the advice of your physician with any questions you may have regarding a medical condition. If you think you may have a medical emergency, call your physician or 911 immediately.










