Advanced pathophysiology exam 1
1. Gametes: a mature haploid male or female germ cell that is able to unite with
another of the opposite sex in sexual reproduction to form a zygote.
2. Gametes have how many chromosomes?: 23
3. diploid cell: A cell containing two sets of chromosomes (2n), one set inherited
from each parent.
4. Haploid: An organism or cell having only one complete set of chromosomes.
5. Meiosis: Cell division that produces reproductive cells in sexually reproducing
organisms
6. Meiosis produces: 4 haploid cells
7. Chromatids are: identical copies of each other if they are part of the same
chromosome
8. chromosomal mosaics: Individual with both normal cells and cells having a
chromosomal abnormality
9. Karyotype: A display of the chromosome pairs of a cell arranged by size and
shape.
10. Karyotype chart: a picture of chromosomes arranged in homologous pairs
11. chromosomal mosaics are formed by: nondisjunction occuring in one
embryonic cell
12. Trisomy: a condition in which an extra copy of a chromosome is present in
the cell nuclei, causing developmental abnormalities.
13. Triosmy 21: Down syndrome
14. Mitosis: cell division in which the nucleus divides into nuclei containing the
same number of chromosomes
15. Mitosis vs. Meiosis: Mitosis: one division forming 2 identical cells (clones);
Meiosis: two divisions forming 4 genetically different cells
16. Turner's syndrome: Born with a single X chromosome. (short, webbed neck,
different physical sexual development.)
17. Turner syndrome characteristics: Females only: short stature, absence of
ovaries, no signs of secondary sex characteristics, coarctation of aorta, edema
in feet
18. Turner Syndrome (45, X): -Nondisjunction during meiosis
-X chromo monosomy
-Clinical features - short stature, webbed neck, cystic hygroma (neck swelling) at
birth, primary amenorrhea (no period), gonadal dysgenesis, 'streak ovaries', Nevi
(brown spots on body), wide set nipples, pedal edema at birth
1/8
, .
-many are mosaics (some cells = X, some XX or XXX). cells w/ 45, X have no Barr
bodies
19. Fragile X Syndrome: a disorder produced by injury to a gene on the X
chromosome, producing mild to moderate mental retardation
20 cystic fibrosis: A genetic disorder that is present at birth and affects both the
respiratory and digestive systems.
21. cystic fibrosis causes: defective gene; results in life-threatening lung
infections and serious digestion problems; may also affect sweat glands.
Millions carry defective gene, but do not have any symptoms, because a
person must inherit two defective genes - one from each parent (1 in 29 white
Americans have gene)
22. autosomal recessive gene: two copies of an abnormal gene must be present
in order for the disease or trait to develop
23. anaplasia: loss of differentiation of cells; reversion to a more primitive cell
type
24. Hyperplasia: increase in number of cells
25. Hyperplasia refers to: Excessive proliferation of cells leading to an increase
in the number of cells
26. physiologic hyperplasia: hormonal and compensatory
27. compensatory hyperplasia: an adaptive mechanism that enables certain
organs to regenerate; occurs significantly in epidermal and intestinal epithelia,
hepatocytes in liver, bone marrow cells, fibroblasts, and some bone, cartilage,
and smooth muscle.
28. Hyperplasia in the liver: Even with 70% of removal of liver mass,
regeneration is complete in two weeks.
29. hormonal hyperplasia: occurs chiefly in estrogen-dependent organs, such as
the uterus and breast
30. hormonal hyperplasia example: pregnancy increases lactation which causes
hyperplasia of breast milk glands and tissue mass
31. pathological hormonal hyperplasia: abnormal proliferation of normal cells
usually in response to excessive hormonal stimulation. Ex. dysfunctional
uterine bleeding.
32. Metaplasia: Mature cell type is replaced by a different mature cell type
33. metaplasia example: smokers lugs newly formed squamous cells lining the
air ways (never over steps boundaries of change)
34. Dysplasia: abnormal development or growth of cells, tissues, or organs
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1. Gametes: a mature haploid male or female germ cell that is able to unite with
another of the opposite sex in sexual reproduction to form a zygote.
2. Gametes have how many chromosomes?: 23
3. diploid cell: A cell containing two sets of chromosomes (2n), one set inherited
from each parent.
4. Haploid: An organism or cell having only one complete set of chromosomes.
5. Meiosis: Cell division that produces reproductive cells in sexually reproducing
organisms
6. Meiosis produces: 4 haploid cells
7. Chromatids are: identical copies of each other if they are part of the same
chromosome
8. chromosomal mosaics: Individual with both normal cells and cells having a
chromosomal abnormality
9. Karyotype: A display of the chromosome pairs of a cell arranged by size and
shape.
10. Karyotype chart: a picture of chromosomes arranged in homologous pairs
11. chromosomal mosaics are formed by: nondisjunction occuring in one
embryonic cell
12. Trisomy: a condition in which an extra copy of a chromosome is present in
the cell nuclei, causing developmental abnormalities.
13. Triosmy 21: Down syndrome
14. Mitosis: cell division in which the nucleus divides into nuclei containing the
same number of chromosomes
15. Mitosis vs. Meiosis: Mitosis: one division forming 2 identical cells (clones);
Meiosis: two divisions forming 4 genetically different cells
16. Turner's syndrome: Born with a single X chromosome. (short, webbed neck,
different physical sexual development.)
17. Turner syndrome characteristics: Females only: short stature, absence of
ovaries, no signs of secondary sex characteristics, coarctation of aorta, edema
in feet
18. Turner Syndrome (45, X): -Nondisjunction during meiosis
-X chromo monosomy
-Clinical features - short stature, webbed neck, cystic hygroma (neck swelling) at
birth, primary amenorrhea (no period), gonadal dysgenesis, 'streak ovaries', Nevi
(brown spots on body), wide set nipples, pedal edema at birth
1/8
, .
-many are mosaics (some cells = X, some XX or XXX). cells w/ 45, X have no Barr
bodies
19. Fragile X Syndrome: a disorder produced by injury to a gene on the X
chromosome, producing mild to moderate mental retardation
20 cystic fibrosis: A genetic disorder that is present at birth and affects both the
respiratory and digestive systems.
21. cystic fibrosis causes: defective gene; results in life-threatening lung
infections and serious digestion problems; may also affect sweat glands.
Millions carry defective gene, but do not have any symptoms, because a
person must inherit two defective genes - one from each parent (1 in 29 white
Americans have gene)
22. autosomal recessive gene: two copies of an abnormal gene must be present
in order for the disease or trait to develop
23. anaplasia: loss of differentiation of cells; reversion to a more primitive cell
type
24. Hyperplasia: increase in number of cells
25. Hyperplasia refers to: Excessive proliferation of cells leading to an increase
in the number of cells
26. physiologic hyperplasia: hormonal and compensatory
27. compensatory hyperplasia: an adaptive mechanism that enables certain
organs to regenerate; occurs significantly in epidermal and intestinal epithelia,
hepatocytes in liver, bone marrow cells, fibroblasts, and some bone, cartilage,
and smooth muscle.
28. Hyperplasia in the liver: Even with 70% of removal of liver mass,
regeneration is complete in two weeks.
29. hormonal hyperplasia: occurs chiefly in estrogen-dependent organs, such as
the uterus and breast
30. hormonal hyperplasia example: pregnancy increases lactation which causes
hyperplasia of breast milk glands and tissue mass
31. pathological hormonal hyperplasia: abnormal proliferation of normal cells
usually in response to excessive hormonal stimulation. Ex. dysfunctional
uterine bleeding.
32. Metaplasia: Mature cell type is replaced by a different mature cell type
33. metaplasia example: smokers lugs newly formed squamous cells lining the
air ways (never over steps boundaries of change)
34. Dysplasia: abnormal development or growth of cells, tissues, or organs
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