MUTATION

Cards (7)

  • Who first described Edward's syndrome?
    John H. Edwards
  • Who is Klinefelter's syndrome named after?
    Dr. Harry Klinefelter
  • What are the types of single chromosome disorders?
    1. Deletion: Genetic material is missing
    2. Duplication: Genetic material is present twice
    3. Inversion: Genetic material is “flipped”
  • What are the two types of chromosome disorders involving two chromosomes?
    1. Insertion: Genetic material is added from another chromosome
    2. Translocation: Material is swapped with another chromosome
  • What is a ring chromosome?
    A chromosome whose arms have fused together to form a ring
  • What is an isochromosome?
    A chromosome that has lost one of its arms and replaced it with an exact copy of the other arm
  • In which conditions can isochromosomes be seen?
    In some females with Turner syndrome or in tumor cells