Human Genetics and Disorders

Question 1

Human Chromosome Disorders Some have

Answer 1

high frequency in humans then in others

Question 2

the high frequency of human chromosomes disorders lead to

Answer 2

most embryos to be spontaneously aborted

Question 3

due to biochemical imbalance

Answer 3

it causes developmental problems

Question 4

Survivable

Answer 4

upsets the balance less

Question 5

syndrome

Answer 5

characteristic set of symptoms

Question 6

Nondisjunction

Answer 6

chromosomes don’t separate properly during meiosis

Question 7

Chromosomal Mutations names

Answer 7

deletion
duplication
inversion
translocation

Question 8

deletion

Answer 8

loss of a chromosomal segment

Question 9

duplication

Answer 9

repeat a segment

Question 10

inversion

Answer 10

reverses a segment

Question 11

translocation

Answer 11

move segment from one chromosome to a non-homologous chromosome

Question 12

in nondisjunction homologous chromosomes

Answer 12

do not separate properly during Meiosis 1

Question 13

in nondisjunction sister chromatids

Answer 13

fail to separate during Meiosis 2

Question 14

aneuploidy

Answer 14

too many or too few chromosomes

Question 15

cause of aneuploidy

Answer 15

trisomy and monosomy

Question 16

trisomy

Answer 16

cells have 3 copies of a chromosome

Question 17

monosomy

Answer 17

cells have only 1 copy of a chromosome

Question 18

karyotype

Answer 18

A complete set of chromosomes from a cell that has been photographed during cell division and arranged in a standard sequence.

Question 19

trisomy 21 aka

Answer 19

down syndrome

Question 20

trisomy 21

Answer 20

3 copies of chromosome 21

Question 21

Chromosome 21 is the

Answer 21

smallest chromosome and has severe affects

Question 22

Frequency of Down
syndrome correlates
with the

Answer 22

age of the mother

as the mother gets older there is a bigger chance a offspring will have down syndrome

Question 23

more humans are tolerant to

Answer 23

sex chromosomes abnormality

either there missing them or have to many

Question 24

XXY

Answer 24

Klinefelter’s syndrome male

Question 25

XXX

Answer 25

Trisomy X female

Question 26

XYY

Answer 26

Jacob’s syndrome male

Question 27

X

Answer 27

Turner syndrome female

Question 28

Amniocentesis

Answer 28

happens in the 2nd trimester
doctor takes the fluid surrounding offspring and the chromosomes are lined up and analyzed with a karyotype and can tell if baby has certain syndromes

Question 29

Polyploidy

Answer 29

Occurs when eukaryotes have more than 2n chromosomes

Major method of creating more plant species

can be lethal in animals

Question 30

As the number of chromosomes increase so does the possible

Answer 30

often in cell size

Question 31

LINKED

Answer 31

Genes found on same chromosome are considered

Question 32

Fewer gamete possibilities

and Why

Answer 32

the closer they are!

because Less possibility for crossing over to occur.

Question 33

does Independent assortment apply to gene linkage

Answer 33

NO NO

No linkage if genes are on separate chromosomes (# of recombinants increases)

Question 34

reccombinant

Answer 34

new possible combos when chromosomes are crossed over

Question 35

Chromosome Mapping

Answer 35

Calculate the frequency of recombinant offspring.

Question 36

Recombination frequency =

Answer 36

map units

Question 37

Greater % recombinant frequency =

Answer 37

greater distance

Question 38

Lower % recombinant frequency=

Answer 38

closer distance