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Medical Genetics Home
Overview of Birth Defects
Overview of Chromosome Abnormalities
Types of Chromosome Abnormalities
Numerical Abnormalities: Overview of Trisomies and Monosomies
Down Syndrome (Trisomy 21)
Trisomy 18 & 13
Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
Translocation Down Syndrome
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
Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
X-linked Recessive: Red-Green Color Blindness, Hemophilia A
X-linked Dominant: Incontinentia Pigmenti
Examples of Teratogens
Fetal Alcohol Syndrome (FAS)
Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
Trinucleotide Repeats: Fragile-X Syndrome
Mitochondrial Inheritance: Leber's Optic Atrophy
Evaluating a Child 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
Vitamin, Gene, and Enzyme Replacement Therapy
Before Your Next Pregnancy
When to Seek Genetic Counseling