Diagnostic clinical genetics (lecture 24)

Question 1

what is cytogenetics?

Answer 1

the study of chromosomes

looking for differences in chromosomes

Question 2

what does cytogenetics include?

Answer 2

chromosome analysis
FISH analysis
Molecular genetics
QF-PCR
MLPA - multiplex ligation dependent probe analysis
array CGH/SNP - comparative genomic hybridisation

Question 3

what are the 2 disciplines?

Answer 3

cytogenetics and molecular genetics

Question 4

what are the 3 types of cytogenetics?

Answer 4

constitutional cytogenetics
array cytogenetics
cancer cytogenetics

Question 5

when do we see chromosomes?

Answer 5

in mitosis

in metaphase

Question 6

chromosome classification

Answer 6

shorter arm = p
longer arm = q

metacentric = p and q are the same 
submetacentric = p < q 
afrocentric = sateliite structure present on p arm 

chromosomes X and Y = sex chromosomes
all others = autosomes

Question 7

chromosome structure

Answer 7

distal = far from centromere 
proximal = near to centromere 
pericentromeric = around the centromere