 | Topic Index |
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 21)
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: 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
Multifactorial Inheritance
Teratogens
Examples of Teratogens
Fetal Alcohol Syndrome (FAS)
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, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
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
Glossary
Support Groups
Online Resources
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Lucile Packard Children's Hospital is located in Palo Alto, adjacent to Stanford University Hospital, approximately 20 miles north of San Jose, CA and 40 miles south of San Francisco.
Lucile Packard Children's Hospital
725 Welch Road
Palo Alto, California 94304
(650) 497-8000
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