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
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
Numerical Abnormalities: Overview of Trisomies and Monosomies
Down Syndrome (Trisomy 21) Trisomy 18 & 13 Turner Syndrome
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
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
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
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 Syndrome Trinucleotide Repeats: Fragile-X Syndrome Mitochondrial 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 Defects Medical 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, Fluorescent In Situ Hybridization (FISH) Studies for Single Gene Defects: DNA (Direct and Indirect) Biochemical Genetic Testing
Chromosome Studies: Karyotype, Extended Banding, Fluorescent In Situ Hybridization (FISH)
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
The Human Genome Project
Vitamin, Gene, and Enzyme Replacement Therapy
Before Your Next Pregnancy
When to Seek Genetic Counseling
Glossary
Support Groups
Online Resources