- Our Services
-
Patients and Families
- Get Directions
- Parking
- Childrens Locations
- Getting Around
- Guidelines for Visitors
- Contact a Patient
- Contact Children's
- Send an e-Card
- Gift Shop
Planning a Visit
- Find a Doctor
- Child Health A-Z
- Community Ed.Classes
- Injury Prevention
- International Patients
- Medical Records
- Patient Handbook
- Patient Procedures
Parents
- For Health Professionals
- Research
- Ways to Give
-
News
-
Adding Breast Milk Ingredient to Formula Could Prevent Deadly Intestinal Problem in Premature Babies
-
Children's Holds Groundbreaking Ceremony for Expansion to New South Fayette Location
-
Child Neurodevelopmental and Mental Health Disabilities on the Rise, Study Finds
News Releases
-
Child Health A-Z
Identification, Treatment, and Prevention of Birth Defects
Identification, Treatment, and Prevention of Birth Defects
Identifying, treating, and preventing birth defects has been and continues to be the goal of genetic research.
Last Update
February 3, 2008
February 3, 2008
-
Child Health A-Z
- X-linked Agammaglobulinemia
- Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
- Autosomal Dominant: Marfan Syndrome
- Overview of Birth Defects
- Biochemical Genetic Testing
- Chromosome Abnormalities
- Overview of Chromosome Abnormalities
- Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
- When to Seek Genetic Counseling
- The Difference Between a Chromosome Abnormality and a Single Gene Defect
- Phenytoin (Dilantin)
- Down Syndrome (Trisomy 21)
- Fetal Alcohol Syndrome
- Overview of Single Gene Defects
- The Human Genome Project
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Identifying Teratogens
- Medical Genetics
- Medical History and Genetic Testing
- Mitochondrial Inheritance: Leber's Optic Atrophy
- Mosaicism
- Mosaic Down Syndrome
- Multifactorial Inheritance
- Evaluating a Child for Birth Defects
- Examples of Non-Teratogenic Agents
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- Online Resources - Medical Genetics
- Overview of Newborn Screening for Birth Defects
- Before Your Next Pregnancy
- Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
- Other Arrangements: Rings and Inversions
- Genetic Services: When, Where, How
- Single Gene Defects
- Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
- Studies for Single Gene Defects: DNA (Direct and Indirect)
- Support Groups
- Examples of Teratogens
- Teratogens
- Testing for Birth Defects
- Translocation Down Syndrome
- Translocations
- Trinucleotide Repeats: Fragile-X Syndrome
- 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
- X-linked Dominant: Incontinentia Pigmenti
- X-linked Recessive: Red-Green Color Blindness, Hemophilia A
- Chromosomal Abnormalities
- Down Syndrome (Trisomy 21)
- Trisomy 18 and 13
- Turner Syndrome
- Genetic Disorders Associated with Congenital Heart Disease
- Down Syndrome (Trisomy 21)
- Glossary
- Medical Genetics
- Chromosome Abnormalities
- Evaluating a Child for Birth Defects
- Genetic Services: When, Where, How
- Glossary
- Identification, Treatment, and Prevention of Birth Defects
- Multifactorial Inheritance
- Non-Traditional Inheritance
- Online Resources - Medical Genetics
- Overview of Birth Defects
- Single Gene Defects
- Support Groups
- Teratogens
- Testing for Birth Defects
- The Difference Between a Chromosome Abnormality and a Single Gene Defect
- Uses of Genetic Testing
