7.1 Chromosomal Abnormality

Question 1

What is a karyotype?

Answer 1

A karyotype is the image of a full set of chromosomes of an individuals cell. Allows the identification of genetic abnormalities.

Question 2

What is banding?

Answer 2

Staining of chromosomes, during metaphase, to reflect regional differences in amount of ATCG bases.

Question 3

What are the two main types of genetic mutation?

Answer 3

Block mutation and Aneuploidy

Question 4

What are the five main forms of block mutation?

Answer 4

Duplication
Deletion
Inversion
Insertion 
Translocation

Question 5

Explain duplication

Answer 5

Replication of a section of genes on a chromosome

Question 6

Explain deletion

Answer 6

The removal of sections from a chromosome

Question 7

Explain inversion

Answer 7

When a section of the polynucleotide stride breaks off, does a 180 and then reattaches.

Question 8

Explain insertion

Answer 8

When a section of one chromosome breaks off and attaches to another

Question 9

Explain translocation

Answer 9

When a whole chromosome or section of one becomes attached to or exchanged with another chromosome or segment.

Question 10

What is non-disjunction

Answer 10

When the chromosomes fail to seperate during meiosis.