6.1 Chromosomal Mutations Part 4

Question 1

What is the Hallmark symptom of Cri du chat syndrome?

Answer 1

enlarged glottis and larynx resulting in cat like cry

Question 2

What is a duplication aberration?

Answer 2

when a portion of genetic material is repeated in any part of the genome

Question 3

Why do duplications occur?

Answer 3

unequal recombination or replications errors occuring before meiosis

Question 4

Do most of the offspring that have duplications survive?

Answer 4

yes

Question 5

What is gene redundancy?

Answer 5

appearance of genes in multiple locations

Question 6

What is an example of duplication that does not affect the individual?

Answer 6

duplications in rDNA

Question 7

What is an example of a duplication that have an extensive alteration to phenotype?

Answer 7

Bar-eye phenotype in Drosophilia

Question 8

What type of aberrations are instrumental in the process of evolution?

Answer 8

duplication

Question 9

What are copy number variations?

Answer 9

individuals have different numbers of copies of sequences of DNA in both coding and noncoding regions of DNA

Question 10

What plays a major role in the variation of individual traits?

Answer 10

CNVs

Question 11

What have CNVs been associated with?

Answer 11

autism, type I diabetes, and certain cancers

Question 12

What does having a high copy number of CCL3L1 do for an individual?

Answer 12

protective against HIV infection

Question 13

What are individuals with high numbers of EPFG gene more responsive to?

Answer 13

treatment for non small cell lung cancer

Question 14

What is the simplest type of translocation?

Answer 14

when two chromosomal arms come in close proximity and exchange genetic information

Question 15

How many times would breaks have to happen for a translocation of internal information exchange?

Answer 15

four times (two on each chromosome)

Question 16

What can translocation result in it does not have an equal exchange?

Answer 16

unbalanced; monosomy or trisomy

Question 17

What are 95% of down syndrome cases a result of?

Answer 17

age-related accidental nondisjunction during meiosis in the mother

Question 18

What is familial down syndrome at a genetic level?

Answer 18

parent is a carrier for a translocation that results in the majority of chromosome 21 being translocated to chromosome 14

Question 19

What is a balanced carrier?

Answer 19

carrier for translocation but they are phenotypically normal