aneuploidy

Question 1

Hw much of your DNA holds instructions for making proteins

Answer 1

1 percent

Question 2

part of DNA with instruction for proteins

Answer 2

genes

Question 3

ow many genes in the body

Answer 3

20 thousand

Question 4

about how many unique proteins can be made

Answer 4

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

Question 5

all 20 thousand genes are found on what

Answer 5

chromosomes

Question 6

what is a chromosome

Answer 6

a tighly wound chunk of DNA

Question 7

almost every human has how many chromosomes

Answer 7

46

Question 8

23 chromosomes are inherited from where

Answer 8

the mother’s egg

Question 9

the other 23 chromosomes come from where

Answer 9

the father’s sperm

Question 10

what is the ‘n’ number of chrosomes for humans

Answer 10

23

Question 11

are the numbers 23 and 46 the same for all organisms

Answer 11

no

Question 12

n

Answer 12

the nuber of chromosomes inherited from one parent

Question 13

in most animal species organisms have how many n

Answer 13

2n ( one from dad one from mom

Question 14

karyotype

Answer 14

a map of all chromosomes sorted by size

Question 15

how are chromosomes numbered

Answer 15

1-22, X or Y

Question 16

what are chromosomes 1-22 called

Answer 16

autosomes

Question 17

the x and y chromosomes are called what

Answer 17

allosomes

Question 18

biggest autosomes

Answer 18

1

Question 19

smallest autosomes

Answer 19

22

Question 20

male

Answer 20

XY

Question 21

females

Answer 21

XX

Question 22

what is aneuploidy

Answer 22

when an organism does not have 2n chromosomes

Question 23

a triplet of one chromosome

Answer 23

trisomy

Question 24

only one copy f one chromosome

Answer 24

monosomy

Question 25

zero copies of one chromosome

Answer 25

Nulisomy

Question 26

four copies of one chromosome

Answer 26

Tetrasomy

Question 27

Multiple of copies of all chromosomes

Answer 27

polyploidy

Question 28

examples for polyploidy

Answer 28

3n, 4n, 10n etc

Question 29

Robertsonian Translocation

Answer 29

look at assignment 1

Question 30

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

Answer 30

YES

Question 31

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

Answer 31

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

Question 32

what happens with too much protein

Answer 32

processes can go awry

Question 33

what will happen with monosomy

Answer 33

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

Question 34

are most aneuploidies survivable

Answer 34

NO

Question 35

what will happen to all embryos with nullisomy early in development

Answer 35

they will miscarry in earl development

Question 36

are monosomies unsurvivable

Answer 36

yes, with two exceptions

Question 37

exceptions to surviving monosomies

Answer 37

turner syndrome, cri du chat syndrome

Question 38

what is considered the only true monosomy that is survivable

Answer 38

turner syndrome

Question 39

what happens in turner syndrome

Answer 39

there is one X chromosome, and no Y chromosome

Question 40

results of turner syndrome

Answer 40

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

Question 41

another name for cri du chat syndrome

Answer 41

5p minue syndrome 5th chrmosome minus 1 p arm

Question 42

is cri du chat syndrome a true monosomy

Answer 42

no

Question 43

what is missing in cri du chat syndrome

Answer 43

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

Question 44

results of cri du chat syndrome

Answer 44

delayed development, mental retardation, heart defects, "cat-like cry"

Question 45

exceptions to trisomies

Answer 45

- patau syndrome - edwards syndrome - down syndrome

Question 46

pateau syndrome is a

Answer 46

trisomy 13

Question 47

result of pateau syndrome

Answer 47

live birth achievable, death within 6 months

Question 48

edwards syndrome is a

Answer 48

trisomy 18

Question 49

result of edwards sydrome

Answer 49

live birth achievable, death within 6 months

Question 50

down syndrome is a

Answer 50

trisomy 21

Question 51

results of dow syndrome

Answer 51

mental impairment, flattened nose and slanted eyes, heart defects

Question 52

which chromosomes are the least sensitive to abnormalities

Answer 52

sex chromosomes

Question 53

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

Answer 53

``` XXX XXY XYY XXXX XXXY XXXXY ```

Question 54

XXX

Answer 54

Triple X syndrome

Question 55

XXY

Answer 55

Klinefelter syndrome

Question 56

XYY

Answer 56

Jacob's syndrome

Question 57

the XX/XY abnormalities are usually

Answer 57

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