Pediatric Health Library
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Click a letter to see a list of conditions beginning with that letter.
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Topic Index - Medical Genetics
Chromosome Abnormalities
Overview of Chromosome Abnormalities
Types of Chromosome Abnormalities
Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
Evaluating a Child for Birth Defects
Genetic Services: When, Where, How