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      Topic Index - Medical Genetics

      Medical Genetics Home

      Overview of Birth Defects

      Chromosome Abnormalities

      Chromosomes

      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

      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

      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

      Teratogens Overview

      Examples of Teratogens

      Fetal Alcohol Syndrome (FAS)

      Phenytoin (Dilantin)

      Varicella

      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

      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

      Support Groups

      Related Topics

      • Neurological Exam for Children
      • Multiple Sclerosis (MS)
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