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Overview of Birth Defects
Chromosome Abnormalities
Overview of Chromosome AbnormalitiesTypes of Chromosome AbnormalitiesNumerical Abnormalities: Overview of Trisomies and MonosomiesDown Syndrome (Trisomy 21)Trisomy 18 & 13Turner SyndromeStructural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)TranslocationsTranslocation Down SyndromeOther Arrangements: Rings and InversionsMosaicismMosaic Down SyndromeHow Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, EnvironmentChance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
Overview of Chromosome Abnormalities
Types of Chromosome Abnormalities
Numerical Abnormalities: Overview of Trisomies and MonosomiesDown Syndrome (Trisomy 21)Trisomy 18 & 13Turner SyndromeStructural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)TranslocationsTranslocation Down SyndromeOther Arrangements: Rings and InversionsMosaicismMosaic Down Syndrome
Numerical Abnormalities: Overview of Trisomies and Monosomies
Down Syndrome (Trisomy 21)Trisomy 18 & 13Turner Syndrome
Down Syndrome (Trisomy 21)
Trisomy 18 & 13
Turner Syndrome
Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
TranslocationsTranslocation Down SyndromeOther Arrangements: Rings and Inversions
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 DefectsAutosomal Dominant: Marfan SyndromeAutosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs DiseaseX-linked Recessive: Red-Green Color Blindness, Hemophilia AX-linked Dominant: Incontinentia Pigmenti
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
Teratogens OverviewExamples of TeratogensFetal Alcohol Syndrome (FAS)Phenytoin (Dilantin)VaricellaExamples of Non-Teratogenic Agents: Spermicides, Acetaminophen, Prenatal Vitamins, Using a Microwave to Cook FoodIdentifying Teratogens
Teratogens Overview
Examples of Teratogens
Fetal Alcohol Syndrome (FAS)Phenytoin (Dilantin)Varicella
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 SyndromeTrinucleotide Repeats: Fragile-X SyndromeMitochondrial Inheritance: Leber's Optic Atrophy
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 DefectsMedical History and Genetic Testing
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 AnalysisStudies for Single Gene Defects: DNA (Direct and Indirect)Biochemical Genetic Testing
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 ProjectVitamin, Gene, and Enzyme Replacement TherapyBefore Your Next PregnancyWhen to Seek Genetic Counseling
The Human Genome Project
Vitamin, Gene, and Enzyme Replacement Therapy
Before Your Next Pregnancy
When to Seek Genetic Counseling
Glossary
Support Groups
Online Resources
Find an MUSC Doctor: »OB/GYN - Maternal-Fetal Medicine »Pediatric Endocrinology »Endocrinology
Treatment at MUSC: »Genetic/Prenatal Counseling Program »Vince Moseley Development Evaluation Center
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