Genetic Disorders Flashcards
1
Q
Types of mutations
A
Addition/insertion
Subtraction/deletion
Substitution
2
Q
How can mutations occur?
A
Meiosis 1- homologous pairs fail to separate
Meiosis 2- sister chromatids fail to separate
3
Q
Karyotype
A
Picture of chromosomes risked during mitosis
4
Q
Down syndrome
A
Trisomy 21
When the 21 chromosome pair had 3 chromosomes
5
Q
Turner syndrome
A
The individual is healthy but they only have 1 sex chromosome.
Always girls
6
Q
Klinefelter syndrome
A
Trisomy 23
Males who have an extra X chromosome (XXY) it is the absence of ovation function which leads to unusual physical traits
7
Q
Thonspodition
A
When order is switched