Clinical Cytogenetics and Cytogenomics

Question 1

Clinical Cytogenetics

Answer 1

Studying human chromosome for the diagnosis of numerical and structural chromosomal abnormalities.

Question 2

Molecular Cytogenetics

Answer 2

The application of FISH (Fluorescent in situ hybridization) for the detection of locus-specific and gene-targeted chromosomal rearrangements.

Question 3

Cytogenomics

Answer 3

The application of microarray technology

for the detection of copy number variants (CNVs).

Question 4

What kinds of detections is Fish used for?

Answer 4

1. microdeletion:
non flourescent on the chromosome
2. translocation: 
flourescent in a different location
3. duplicaiton:
extra flourescent

Question 5

Karyotypes

Answer 5

Displaying chromosome by length and postition of centromere

Question 6

Bands

Answer 6

useful for inndivdual chromosome