Chromosomes and Chromosomal Abnormalities

Question 1

Aneuploidy

Answer 1

Whole Missing/Extra Chromosome

Question 2

Translocation (Chromosomes)

Answer 2

Rearrangement of Chromosomes

Question 3

Why is it favourable to get X chromosome aneuploidy?

Answer 3

X inactivation protects from aneuploidy because of only 1 X chromosome activating

Question 4

What is the most common aneuploidy?

Answer 4

Trisomy 21

Question 5

What is Edward Syndrome?

Answer 5

Trisomy 18

Question 6

Patau Syndrome

Answer 6

Trisomy 13

Question 7

How would you best get a rapid prenatal diagnosis of chromosomal abnormalities?

Answer 7

Interphase Chromosome Count using FISH (Fluorescence In Situ Hybridization)

Array CGH Comparative Genome Hybridization

Question 8

Chromosomal Insertion

Answer 8

A bit of 1 chromosome accidentally ends up inside another chromosome

not so likely to get phenotypic effects

Question 9

Robertsonian Translocation

Answer 9

only apply to acrocentric chromosomes, two acrocentric chromosomes get stuck end to end

Question 10

In which pathology is the Philadelphia Chromosome most important?

Answer 10

Chronic Myeloid Leukaemia