FINAL EXAM - CH. 1-6

Usually 1 extra X chromosome; XXY

Genetic Disorders are divided in 4 groups

(conversion of one cell type to another)

cause results from unintended or unwanted medical treatment

____ the assault and return to pre-injury normal state. [Reversible]

Replacement of one differentiated cell type with another

probability that a test will be negative when applied to a person without a particular condition

(increased cell size)

Tissue hypoxia is most often caused by ischemia; causes ____ in the cell.

Most human traits develop in response to more than one gene. These traits are called

cellular swelling because of accumulation of water

extent to which a test can differentiate between presence or absence of a person’s condition

abnormal number of chromosomes, either > or < 46 in humans

time between exposure of tissue to injurious agent and first appearance of signs and/or symptoms

causes or reasons of disease

a sudden increase in severity of disease or signs or symptoms

(disorderly growth)

Cells shrink & reduce their functions in response to normal & injurious factors in an effort to minimize energy consump

stage of recovery after a disease, injury, or surgical procedure

cause is unknown

degree to which a measurement reflects the true value of what it intends to measure

Ischemia is the most common cause of cell injury and injures cells faster than hypoxia alone

Example of Autosomal Aneuploidy:

The aging process and disease processes are different

____ (usually due to ischemia/ toxic injury) o Cell ruptureo Spilling of contents into extracellular fluido Inflammation

Programmed senescence theory: Aging is the result of intrinsic genetic program

Increase in cell mass accompanied by augmented functional capacity in response to physiologic &pathophysiologic demands

Mendelian Single-Gene Disorders Result from alterations or mutations of single genes

Increase in functional capacity related to an increase in cell number because of mitotic division

Symptoms appear after age 40

development of disease

(increased cell number)

Multifactorial traits do not follow clear cut modes but tend to “run in families”.

Chromosomal Abnormalities Generally Result From:

The study of abnormalities in physiologic functioning of living beings

____ to a persistent but sub-lethal change/injury by changing structure or function. [Reversible]

disease/illness reaches its full intensity

patient functions normally; disease processes are well established

Free radical theory: Aging results from cumulative and progressive damage to cell structures

test’s ability to give the same results in repeated measurements

Disorganized appearance of cells because of abnormal variations in size, shape, and arrangement

Traits and disorders influenced by multiple genes as well as environmental factors are called

time during which first signs and/or symptoms appear indicating onset of disease. Often nonspecific

Monosomy X: 1 normal X chromosome; no Y chromosome

(decreased cell size)

probability that a test will be positive when applied to a person with a particular condition

general treatment strategies

____ (occurs from injury that does not directly kill the cell but triggers “suicide”)o No ruptureo No inflammation

decrease in severity, signs, or symptoms; may indicate disease is cured

oMost affected pregnancies are lost before termoBabies are born small &have heart defectsoSevere intellectual disability

subsequent pathologic condition resulting from an illness