1. Fertilization
    • The unity of a sperm and ovum
    • Each contributing 23 chromosomes to the zygote
  2. Mitosis
    Chromosomes duplicate and divide to form two daughter cells, each with 46 chromosomes. 
  3. Congenital
    Congenital are abnormalities present at birth but isn't necessarily genetic in origin. 
  4. Developmental abnormality
    a broad sense that refers to diseases that affect normal maturation. 
  5. Genetic disease
    A disease caused by an abnormal gene
  6. Monogenetic
    (single gene). monogenetic defects encompasses the classic genetic disease in which a single abnormal gene is responsible for the disease and can be traced through family trees. 
  7. Polygenetic
    • (multiple gene) polygenetic or complex gene defects involve more than one abnormal gene and sometimes environmental factors for their expression. 
    • Example: DM.
  8. Chromosomal disease
    define by microscopically visible structural changes in chromosomes. This can include changes in chromosomal number (i.e. trisomy 21 or down syndrome) or visually detectable translocations. 
  9. Buccal smear
    epithelial cells are scraped from the inside of the mouth and examined under a microscope.
  10. Karyotyping
    visualization of chromosomes by inducing cells to grow in cell culture, arresting the dividing cell during mitosis, and squashing and staining the cells so that the chromosome can be seen under a microscope. 
  11. Familial disease
    • disease in which several family members have the same genetically or chromosomal based disease. 
    • It doesn't necessarily mean familial b/c many individual with genetic disease do not have family hx of the disease b/c it is either recessive or b/c the disease is caused by a new germ cell mutation. 
  12. Sickle Cell anemia
Card Set
Quiz week 5