Medical Genetics

Question 1

Karyotype

Answer 1

Can detect: aneuploidy, large del/dup, translocation, inversion — that can be seen with microscope. MUST CHANGE NUMBER, SIZE, OR BANDING PATTERN

Question 2

Microarray

Answer 2

Picks up ANY chromosomal imbalance, it NOT balanced ones (detects overall AMOUNT OF dNA. Does NOT tell us where it is located. Use to determine cause when we suspect chromosomal abnormality. used to help diagnose moderate-severe intellectual disability