Topic Index
Overview of Birth Defects
Chromosome Abnormalities
Overview of Chromosome AbnormalitiesSingle Gene Defects
Types of Chromosome Abnormalities
Numerical Abnormalities: Overview of Trisomies and MonosomiesHow Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
Down Syndrome (Trisomy 21)Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
Trisomy 18 & 13
Turner Syndrome
TranslocationsMosaicism
Translocation Down SyndromeOther Arrangements: Rings and Inversions
Mosaic Down Syndrome
Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
Overview of Single Gene DefectsThe Difference Between a Chromosome Abnormality and a Single Gene Defect
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
Multifactorial Inheritance
Teratogens
Examples of TeratogensNon-Traditional Inheritance
Fetal Alcohol Syndrome (FAS)Examples of Non-Teratogenic Agents: Spermicides, Acetaminophen, Prenatal Vitamins, Using a Microwave to Cook Food
Phenytoin (Dilantin)
Varicella
Identifying Teratogens
Uniparental Disomy: Prader-Willi Syndrome, Angelman SyndromeEvaluating a Child for Birth Defects
Trinucleotide Repeats: Fragile-X Syndrome
Mitochondrial Inheritance: Leber's Optic Atrophy
Overview of Newborn Screening for Birth DefectsTesting for Birth Defects
Medical History and Genetic Testing
Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray AnalysisUses of Genetic Testing
Studies for Single Gene Defects: DNA (Direct and Indirect)
Biochemical Genetic Testing
Genetic Services: When, Where, How
Identification, Treatment, and Prevention of Birth Defects
The Human Genome ProjectGlossary
Vitamin, Gene, and Enzyme Replacement Therapy
Before Your Next Pregnancy
When to Seek Genetic Counseling
Support Groups
Online Resources
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