Chromosome Abnormalities Flashcards
1
Q
X chromosome abnormalities
A
More or fewer copies of sex chromosomes X
2
Q
Aneuploidy
A
More or fewer copies of a particular chromosome
3
Q
Deletions, micro deletions, duplications, translocations and inversions
A
Part of chromosome is missing or exchanged
4
Q
What is an example of Aneuploidy?
A
Trisomy of the 21st chromosome - leads to Down’s syndrome
5
Q
What is a gene?
A
Functional stretch of DNA on a chromosome contains exons and introns with promoter region bound by RNA polymerase and transcription factors
