3.2. Human genetics and genetic disorders Flashcards
1
Q
How many chromosomes do humans have?
A
46 chromosomes (23 pairs)
2
Q
What is a ‘chromsomes picture’ called?
A
Karyotype
3
Q
What are chromsome pairs 1-22 called?
A
Autosomes
4
Q
What are the 23rd pair called?
A
Sex chromosomes- XY Males XX Females
5
Q
What is banding?
A
A technique used to stain chromosomes so that a visible karyotype can be produced. There is a unique pattern of light and dark for each chromosome
6
Q
Name the 3 parts of a chromosome
A
P
Centromere
Q
7
Q
Define a CHROMOSOMAL disorder
A
- Changes in chromosome structure (Translocations, duplications, deletions, inversions) or number (Polyploidy, aneuploidy)
- Multiple organ systems affected
- Usually ‘de novo’ (happens for 1st time in family)
