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• What is a mutation?

  Change in gene structure transmitted to generations
• What causes mutations?

  Alteration of DNA base units or larger sections
• What are mutagens?

  Factors that induce mutations
• In which types of cells can mutations occur?

  Reproductive and body cells
• Which mutations can be passed to offspring?

  Mutations in sex cells
• What happens if a mutated sex cell is fertilized?

  The mutated gene becomes part of offspring's DNA
• What can happen if a mutation is severe?

  The resulting protein may be nonfunctional
• What is a gene mutation?

  Permanent change in a gene's DNA sequence
• What is a chromosomal mutation?

  Mutation occurring at the chromosome level
• What can cause chromosomal mutations?

  Parts of chromosomes breaking off or rejoining
• What are the four types of chromosomal mutations?

  • Deletion: loss of chromosome part
  • Duplication: extra copy of chromosome part
  • Inversion: reverses direction of chromosome parts
  • Translocation: part of one chromosome attaches to another
• What is Down syndrome caused by?

  Extra full or partial copy of chromosome 21
• What are the physical features of Down syndrome?

  Developmental changes and distinct physical features
• What is Edwards syndrome also known as?

  Trisomy 18
• What are the characteristics of children with trisomy 18?

  Low birth weight and multiple birth defects
• What causes Jacobsen syndrome?

  Deletions in the long arm of chromosome 11
• What are the main characteristics of Jacobsen syndrome?

  Craniofacial dysmorphism and congenital heart disease
• What is Klinefelter's syndrome characterized by?

  Presence of an extra X chromosome (XXY)
• What is Turner syndrome?

  Condition with missing or partially missing X chromosome
• What problems can Turner syndrome cause?

  Short height and failure of ovaries to develop
• When can Turner syndrome be diagnosed?

  Before birth or during infancy
• What can delay the diagnosis of Turner syndrome?

  Mild early childhood symptoms