Chapter 3 part 2

Question 1

Deletion

Answer 1

A type of chromosomal aberration or mutation at the DNA level in which there is a loss of part of a chromosome or of one or more nucleotides

Question 2

Interstitial Deletion

Answer 2

Deletion that occurs from the interior of a chromosome

Question 3

Terminal deletion

Answer 3

A deletion that occurs toward the end of a chromosome

Question 4

Duplication

Answer 4

A segment of DNA that duplicated itself

Question 5

Inversion

Answer 5

A change in direction of the genetic material along a single chromosome

Question 6

Pericentric Inversion

Answer 6

A chromosome inversion that includes the centromere

Question 7

Paracentric Inversion

Answer 7

A chromosomal inversion that does not include the centromere

Question 8

Inversion loop

Answer 8

A structure formed in meiosis I by a chromosome with either a paracentric or pericentric inversion

Question 9

Translocation

Answer 9

A segment of one chromosome becomes attached to a different chromosome(not a normal event)

Question 10

Reciprocal Translocation

Answer 10

Two non-homologous chromosomes exchange genetic material

rearrangement of genetic material, not change in total amount

Question 11

Balanced Translocation

Answer 11

If there is the same amount of genetic material after reciprocal translocation

Question 12

Unbalanced Translocation

Answer 12

If there is genetic material missing, or transfer of genetic material occurs in only one direction after translocation

Question 13

Robersonian Translocation

Answer 13

Translocation between two acrocentric chromosomes

Question 14

Translocation cross

Answer 14

Must form for the translocated chromosome to synapse properly

Question 15

Alternate segregation

Answer 15

at meiosis in reciprocal translocation heterozygote, the passage of both chromosomes to one pole and both translocated chromosomes to the other pole, giving genetically balanced gametes

Question 16

Adjacent Translocation

Answer 16

Segregation of non-homologous chromosomes in a reciprocal translocation heterozygote such that unbalanced gametes with duplications and deficiencies are produced (horizontal divide)

Question 17

Adjacent 2 segregation

Answer 17

segregation of homologous chromosomes during meiosis in a translocation heterozygote such that unbalanced gamete with duplication and deficiencies are produced (vertical divide)

Question 18

Meiotic Non-disjunction

Answer 18

Failure of two members of a chromosome pair to separate from one another during meiosis, causing both chromosomes to go to a single daughter cell

Question 19

Pseudodominant

Answer 19

The apparent dominant transmission of a disorder when an individual homozygous for a recessive gene has effected offspring through having children with an individual who is also a carrier

Question 20

Describe some most commonly seen chromosome disorders caused by numerical as well as structural abnormalities

Answer 20

cri-du-chat syndrome

Wolf-Hirshhorn syndrome

Question 21

Cri-du-chat syndrome

Answer 21

cry of young infants
heart defects
mental disability

Question 22

Wolf-Hirshhorn syndrome

Answer 22

Abnormal facial features
mental disabilities, seizures
Slow growth and development
Caused by deletion of chromosome 4 in the short arm