Clinical Genetics Flashcards
1
Q
What type of mutations can Array Genomic Hybridisation detect?
A
Microscopic deletions or duplications
2
Q
Array Genomic Hybridisation can only detect unbalanced or balanced chromosomal rearrangements?
A
Unbalanced
3
Q
Classical phenotype of Kubaki Makeup Syndrome?
A
- Cleft palate
- Classical face
- Classical fingers
4
Q
What is a de-novo mutation?
A
A mutation which presents for the first time in one family member
5
Q
What causes De-novo mutations?
A
- mutation in either the egg or sperm
- variant which occurs during fertilisation
6
Q
What is the best test for de-novo mutations?
A
Next generation sequencing is the best
7
Q
Genetic targeting treatment for spinomuscular dystrophy
A
Improve gene splicing
8
Q
Genetic targeting treatment for tuberous sclerosis
A
Rapamycin which targets mTor
