Ch. 7 Terms - Pathophysiology for the Health Professions

  1. Allele
    Code for phenotype or characteristic manifested in an individual.
  2. Amniocentisis
    Extraction of amniotic fluid from the uterus and extraction of a sample of the chorionic villus of the fetus so as to examine a sample of fetal tissue.
  3. Anomaly
    An abnormal structure, often genetic
  4. Autosomes
    22 of the 23 pairs of chromosomes, with the exception of #23, which determines the sex traits
  5. Expression
    The effect or phenotype of an altered gene.
  6. Gene penetration
    Frequency of expression of gene among individuals carrying the gene.
  7. Genotype
    The genetic makeup of a cell or individual.
  8. Heterozygous
    One normal gene and one disease gene are present in the pair.
  9. Incomplete dominant
    When heterozygotes display clinical signs of a disease, and homozygotes show the full expression of the disease.
  10. Karyotype
    A visual demonstration of the pairs of cell chromosomes arranged by size.
  11. Meiosis
    Type of cell reproduction in humans where each sperm and ovum receive only 23 chromosomes, or one chromosomes from each pair.
  12. Mitosis
    Process of cell reproduction resulting in two daughter cells with the same DNA as the parent cell.
  13. Mutation
    Change that occurs as a result of an error in the process of meiosis or mitosis and alters the genetic material.
  14. Neonates
    Newborn child
  15. Organogenisis
    During the first 2 months of embryonic life when the cells are rapidly dividing and differentiating.
  16. Phenotype
    The effect or expression of an altered gene.
  17. Polygenic
    Multifactorial diseases caused by multiple genes.
  18. Teratogenic
    Agents that cause damage during embryonic or fetal development.
  19. Trisomy
    Three chromosomes rather than 2.  Often the case with Down's Syndrome.
  20. What is TORCH?
    Acronym applied to routine prenatal screening tests for high risk maternal infections - 

    • Toxoplasmosis
    • Other - Hep B, mumps, varicella, gonorrhea, syphilis, 
    • Rubella
    • Cytomegalovirus
    • Herpes
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Ch. 7 Terms - Pathophysiology for the Health Professions
Ch. 7 Terms - Pathophysiology for the Health Professions