Summary and Key Points

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  • Genetic disease can result from mutations in vital DNA sequences. Not all DNA changes cause disease. Nondisease-causing DNA sequence variations that occur in 1% or more of the population are known as polymorphisms.
  • Genetic disease can be inherited in many ways. Modes of inheritance are commonly grouped into 2 categories: traditional or Mendelian patterns and nontraditional modes of inheritance.



    • Autosomal dominant
    • Autosomal recessive
    • X-linked dominant
    • X-linked recessive
    • Imprinting
    • Mitochondrial
    • Uniparental disomy
    • Trinucleotide expansion
    • Germline mosaicism
    • Multifactorial
  • Many online genetic resources are available. GeneTests is a website containing helpful educational materials and a comprehensive listing of available genetic tests. OMIM contains a large repository of reviews of genetic conditions. Both the NSGC and ACMG websites allow clinicians to locate genetics professionals.