Week 3 Mutations-P2

Question 1

Cytogenetics

Answer 1

The study of chromosomes and their abnormalities

Question 2

The goal of cytogenetic analysis

Answer 2

To help diagnose / plan treatment,

Question 3

Meta centric, sub centric and acrocentric

Answer 3

M-Centre
S-Slightly off set
A-At the edges

Question 4

Karotype

Answer 4

Display of chromosomes / group

Question 5

Euploidy

Answer 5

Having correct no of chromosomes

Question 6

Polyploidy

Answer 6

Presence of abnormal amount of chromsomes e.g 2-3-4 more

Question 7

Aneuploidy

Answer 7

Missing or having an extra

Question 8

non-disjunction

Answer 8

Failure for chromosomes to split apart and go into new daughter cells

Question 9

How many steps does meiosis have

Answer 9

2

Question 10

Condiitons examples and chromosomes group involved

Answer 10

Downs 21
Edwards 18
Patua 13

Question 11

How can chromosomal mutations occur

Answer 11

deletions, inversions, translocations

Question 12

Name and explain the two types of chromosomal deletion

Answer 12

Terminal deletion - Single break, loss of the tip
Interstital deletion - Two breaks, loss of material

Question 13

Chromosome inversion

Answer 13

Two breaks of chromosome, inverts and moves into other pair

Question 14

Translocation

Answer 14

A portion of one chromosome is transported to the other

Question 15

Reciprocal translocation

Answer 15

exchange of segments between non-homologous chromosomes

Question 16

Robertsonian translocation

Answer 16

the long arms of two non-homologous, acrocentric chromosomes
fuse at the centromeres to form a single chromosome