paediatric genetics Flashcards
1
Q
What is the mutation associated with down syndrome
A
Trisomy 21
2
Q
What is down syndrome associated with
A
- Trisomy 21
- Learning disability
- Tetralogy of fallot
- Hypothyroidism
- Early onset Alzheimer
3
Q
What is the gold standard to diagnose a intellectual disability or malformation syndrome
A
Trio-based exome/genome
4
Q
What is acrocephalopolysyndactyly
A
- Tall forehead
- Polydactyly
- Syndactyly
5
Q
What is pierre-robin sequence
A
Small chin to cleft palate due to the tongue not having enough space so it is pushed up and pushes on the palate
6
Q
Describe fetal akinesia sequence
A
Reduced fetal movement which leads to:
- Reduced breathing
- contractures
- clefting
- lung hypoplasia
7
Q
Which chromosome is affected in turners syndrome
A
45,X
8
Q
What is the presentation of turners syndrome
A
- Lymphoedema (puffy)
- Increased carrying angle
- low hairline
- wide nipple
- short stature
- coarctation of aorta
- hypothyroidism
- UTI
- Primary amenorrhoea and infertility
9
Q
What is the investigation process if someone has a learning disability
A
- microarray to look at chromosome number
- Fragile X gene
- Targetted test
- Trio based exome
10
Q
What are the features of 22q11 deletion
A
- Cleft palate
- abnormal faeces
- thymic hypoplasia
- Calcium
- Heart problems
