Chapter 8

Question 1

the variations in the number and structure of chromosomes

Answer 1

chromosome mutations

Question 2

what are mutations that that alter the structure of the chromosome?

Answer 2

chromosome rearrangement

Question 3

what are mutations that alter the number of chromosomes

Answer 3

aneuploidy

Question 4

What are chromosome mutations that add complete sets of chromsomes

Answer 4

polyploidy

Question 5

What is a mutation where part of the chromosome has been doubled

Answer 5

chromosome duplication

Question 6

what is the duplication where the segment is next to the original or far away from the original respectively

Answer 6

tandem and displaced duplication

Question 7

What is a duplication that is inverted

Answer 7

reverse duplication

Question 8

what are sections of the genome that have duplications greater than 1000 bp

Answer 8

segmental duplications

Question 9

what is the process where chromosomes misalign during crossing over

Answer 9

unequal crossing over

Question 10

What is the rearrangement where a chromosome segment is lost

Answer 10

chromosome deletion

Question 11

What is the phenomenon where a recessive allele is demonstrated because of the wild type allele being lost with deletion?

Answer 11

pseudodominance

Question 12

What is the phenomenon where one copy is not enough to produce a wild-type phenotype?

Answer 12

haploinsufficient

Question 13

What is the rearrangement where a chromosome segment is turned 180 degrees.

Answer 13

chromosome inversion

Question 14

what are inversions that do not include and include the centromere respectively

Answer 14

paracentric and pericentric inversions

Question 15

What is the phenomenon where the position alters the outcome

Answer 15

position effect

Question 16

What is a chromatid with two centromeres and no centromeres respectively

Answer 16

dicentric and acentric chromatid

Question 17

What is the structure where the dicentric chromatic is brought to the center in anaphase I

Answer 17

dicentric bridge

Question 18

What is the mutation where genetic material is moved between nonhomologous chromosomes or within the same chromosome

Answer 18

translocation

Question 19

What is the form of translocation where genetic material is moved without any reciprocal exchange and with exchange respectively

Answer 19

nonreciprocal and reciprocal translocation

Question 20

What is a form of translocation where two acrocentric chromosomes are combined to form one metacentric chromosome and a small fragment

Answer 20

Robertsonian translocation

Question 21

What is segregations where the normal chromosomes and the translocated chromosomes move in respective pairs to opposite poles.

Answer 21

Alternate segregation

Question 22

What happens when a normal and translocated chromosome move together, but whose centromeres sharing chromosomes are seperated

Answer 22

adjacent-1 segregation

Question 23

What Happens when the two normally homologous chromosomes before translocation go together (rare)

Answer 23

Adjacent-2 segregation

Question 24

What are areas that develop constrictions or gaps when the cells are grown in culture and are prone to breakage

Answer 24

fragile sites

Question 25

What syndrome sees a fragil site on the X-chromosome

Answer 25

fragile-X syndrome

Question 26

What uses the number of copies to detect rearrangements?

Answer 26

copy-number variations

Question 27

what are variations that include rearrangements and copy-number variations?

Answer 27

structural variants

Question 28

what is the loss of both members of a homologous pair

Answer 28

nullisomy

Question 29

What is the loss of a single chromosome

Answer 29

monosomy

Question 30

What is the gain of a single chromosome

Answer 30

trisomy

Question 31

What is the gain of two homologous chromosomes

Answer 31

tetrasomy

Question 32

A duplication of a chromosome 21 that results in flat face, small nose, oval-shaped eyes, and intellectual disabilities

Answer 32

Down syndrome/trisomy 21

Question 33

What is the form of down syndrome that impacts 92% of the afflicted with a full copy of chromosome 21 mainly in nondisjunction during egg formation

Answer 33

primary down syndrome

Question 34

What form of down syndrome results in the combination of chromosome 21's long arm with another chromosome (chromosome 14 short arm; centromere from 14) via Robertsonian translocation and can run in the family

Answer 34

familial down syndrome

Question 35

What are carriers of the familial down syndrome that are normal despite lacking a chromosome

Answer 35

translocation carriers

Question 36

What is the syndrome with an additional chromosome 18; that have a intellectual disability, low-set of ears, short neck, deformed feet, clenched fingers, hear problems, and other disabilities. Most die early

Answer 36

Edwards syndrome/trisomy 18

Question 37

What is the syndrome with an additional chromosome 13 that results in a small head, sloping forehead, small eyes, a cleft lip and palate, extra fingers and toes, and numerous other problems; most die before 3

Answer 37

patau syndrome/trisomy 13

Question 38

What is a rare condition that leads to disability in intelligence, low-set of malformed ears, contracted fingers and toes, and most are mosaics.

Answer 38

trisomy 8

Question 39

what is the condition where both chromosomes are inherited from the same parent

Answer 39

uniparental disomy

Question 40

regions of tissues with different chromosome constitutions

Answer 40

genetic mosaicism

Question 41

what are sexual mosaics

Answer 41

gynandromorphs

Question 42

What are polyploidy genomes that are produced by accidents of mitosis or meiosis that produce extra sets of chromosomes, all derived from a single species.

Answer 42

autopolyploidy

Question 43

What are gametes with different numbers of chromosomes

Answer 43

unbalanced gametes

Question 44

What are polyploidy genomes that are produced by hybridizing two species

Answer 44

allopolyploidy

Question 45

what is a type of allopolyploid that consists of two combined diploid genomes

Answer 45

amphidiploid