Chromosome abnornalities

Question 1

Which tissue types can be cultured?

Answer 1

Blood-T-lymphocytes
Skin/umbilical cord/placenta
Bone marrow
Solid tumour
Amniotic fluid

Question 2

How would you write chromosomes for a healthy man and woman using ISCN nomenclature

Answer 2

Woman-46,XX

Man-46, XY

Question 3

What are the 3 numerical chromosome abnormalities?

Answer 3

Trisomy, Monosomy, Polyploidy

Question 4

What is trisomy

Answer 4

47, XX + 21

Extra chromsome-on 21st chromosome this reuslt in Downs syndrome

Question 5

What is polyploidy?

Answer 5

69,XXY

Each chromosome pair has an additional chromosome

Question 6

What are the 4 structural chromosome abnormality?

Answer 6

Translocation
Inversion
Duplication
Deletions

Question 7

What are constitutional abnormalities

Answer 7

Occur at gametogenesis
Affects all bodily cells
Heritable

Question 8

What are acquired abnormalities?

Answer 8

Changes occur during lifetime
Restricted to malignant tissue
Not heritable

Question 9

What is the role of cytogenetics?

Answer 9

-Detection of chromosomal abnormalities
Used for:
Confirmation of malignancies
Classification of a disease type
Prognosis
Monitoring

Question 10

What can cytogenetics be?

Answer 10

Prenatal and postnatale, numerical or structural, balanced or unbalanced

Question 11

What is FISH

Answer 11

Routine-provides quick results without needing to look at chromosomes

Question 12

What do arrays do

Answer 12

Investiaget the genome at a higher resolution than possible by microscopy