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pathophysiology > aneuploidy > Flashcards

aneuploidy Flashcards

1
Q

Hw much of your DNA holds instructions for making proteins

A

1 percent

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2
Q

part of DNA with instruction for proteins

A

genes

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3
Q

ow many genes in the body

A

20 thousand

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4
Q

about how many unique proteins can be made

A

80,000 to 100,000 unique ones can be made

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5
Q

all 20 thousand genes are found on what

A

chromosomes

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6
Q

what is a chromosome

A

a tighly wound chunk of DNA

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7
Q

almost every human has how many chromosomes

A

46

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8
Q

23 chromosomes are inherited from where

A

the mother’s egg

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9
Q

the other 23 chromosomes come from where

A

the father’s sperm

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10
Q

what is the ‘n’ number of chrosomes for humans

A

23

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11
Q

are the numbers 23 and 46 the same for all organisms

A

no

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12
Q

n

A

the nuber of chromosomes inherited from one parent

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13
Q

in most animal species organisms have how many n

A

2n ( one from dad one from mom

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14
Q

karyotype

A

a map of all chromosomes sorted by size

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15
Q

how are chromosomes numbered

A

1-22, X or Y

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16
Q

what are chromosomes 1-22 called

A

autosomes

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17
Q

the x and y chromosomes are called what

A

allosomes

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18
Q

biggest autosomes

A

1

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19
Q

smallest autosomes

A

22

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20
Q

male

A

XY

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21
Q

females

A

XX

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22
Q

what is aneuploidy

A

when an organism does not have 2n chromosomes

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23
Q

a triplet of one chromosome

A

trisomy

24
Q

only one copy f one chromosome

A

monosomy

25
Q

zero copies of one chromosome

A

Nulisomy

26
Q

four copies of one chromosome

A

Tetrasomy

27
Q

Multiple of copies of all chromosomes

A

polyploidy

28
Q

examples for polyploidy

A

3n, 4n, 10n etc

29
Q

Robertsonian Translocation

A

look at assignment 1

30
Q

does the body need to have a certain number of each protein inside

A

YES

31
Q

what happens when one extra copy of a chromosome exists (trisomy)

A

the gene on the chromosome are transcribed and translated 1.5 times faster than they should be (3 chances instead of 2)

32
Q

what happens with too much protein

A

processes can go awry

33
Q

what will happen with monosomy

A

proteins are only made at 50% of the rate they should be

34
Q

are most aneuploidies survivable

A

NO

35
Q

what will happen to all embryos with nullisomy early in development

A

they will miscarry in earl development

36
Q

are monosomies unsurvivable

A

yes, with two exceptions

37
Q

exceptions to surviving monosomies

A

turner syndrome, cri du chat syndrome

38
Q

what is considered the only true monosomy that is survivable

A

turner syndrome

39
Q

what happens in turner syndrome

A

there is one X chromosome, and no Y chromosome

40
Q

results of turner syndrome

A

short stature, typically infertility, webbed neck, typically normal intelligence

41
Q

another name for cri du chat syndrome

A

5p minue syndrome

5th chrmosome minus 1 p arm

42
Q

is cri du chat syndrome a true monosomy

A

no

43
Q

what is missing in cri du chat syndrome

A

a portion of the short (p) arm of the 5th chromosome is missing

44
Q

results of cri du chat syndrome

A

delayed development, mental retardation, heart defects, “cat-like cry”

45
Q

exceptions to trisomies

A
  • patau syndrome
  • edwards syndrome
  • down syndrome
46
Q

pateau syndrome is a

A

trisomy 13

47
Q

result of pateau syndrome

A

live birth achievable, death within 6 months

48
Q

edwards syndrome is a

A

trisomy 18

49
Q

result of edwards sydrome

A

live birth achievable, death within 6 months

50
Q

down syndrome is a

A

trisomy 21

51
Q

results of dow syndrome

A

mental impairment, flattened nose and slanted eyes, heart defects

52
Q

which chromosomes are the least sensitive to abnormalities

A

sex chromosomes

53
Q

examples of abnormalities from XX/XY that are seen in humans

A 
XXX
XXY
XYY
XXXX
XXXY
XXXXY
54
Q

XXX

A

Triple X syndrome

55
Q

XXY

A

Klinefelter syndrome

56
Q

XYY

A

Jacob’s syndrome

57
Q

the XX/XY abnormalities are usually

A

survivable and do not have many effects on the person, but usually sterility

pathophysiology (24 decks)

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