Genetics Flashcards
1
Q
Causes of Down syndrome
A
- nondisjunction
- translocation
- mosaicism
2
Q
Mean IQ in Down syndrome
A
45-48
3
Q
Down syndrome facies
A
- Brachcephaly
- upslanted palpebral fissures
- Brushfield spots
- epicanthic folds
- flat nasal bridge
- low set ears
- protruding tongue
4
Q
Risks associated with Down syndrome
A
- congenital heart disease
- ophthalmologic disorders
- hearing loss
- thyroid dysfunction
- stuctural GIT problems (dudenal atresia, Hirschsprung’s)
- Coeliac disease
- myelodysplasia
- leukaemia
- dementia
- obesity
5
Q
Phenotypic features of Edward syndrome (T18)
A
- micrognathia
- low set ears
- rockerbottom feet
- club feet
- congenital heart disease
- diaphragmatic hernia/ omphalocoele
- overlapping fingers
- neural tube defects
6
Q
Phenotypic features of Patau syndrome (T13)
A
- holprosencephaly
- hypotelorism
- micro/anopthalmia
- cutis aplasia
- low set ears
- overrinding fingers
- congenital heart disease
- enlarged kidneys
- cleft lip and palate
7
Q
Phenotypic features of Turner syndrome
A
45X
- hydrops fetalis
- puffy feet
- webbed neck
- short stature
- ovarian dysgenesis
- coarctation of aorta
- ASD/VSD/ bicuspid aortic valve
8
Q
Phenotypic features of Klinefelter syndrome
A
47XXY
- tall stature
- hypogonadism
- gynaecomastia
- mild ID
9
Q
Features of 22q deletion syndrome (Di George)
A
- cleft palate
- thymic hypoplasia
- CHD
- midface hypoplasia
- decreased upper helices of ears
- learning difficulties
- tapered fingers
- increase in psychiatric disease
10
Q
Features of Williams syndrome
A
- developmental delay
- short stature
- periorbital fullness
- big ears
- outgoing persoality/ musicality
- AS/PS
- infantile hypercalcaemia
11
Q
Features of Prader Willi syndrome
A
- low birth weight/poor feeding
- insatiable appetite and obesity
- rosebud mouth
- almond shaped palpebral fissures
- small hands and feet
- diabetes, hypertension, psychiatric problems
12
Q
Features of Angelman syndrome
A
- increased tone
- jerky movements
- microcephaly
- seizures
- beaked nose, wide mouth
13
Q
Example of autosomal recessive disorders
A
- cystic fibrosis
- sickle cell disease
- albinism
- spinal muscular atrophy
- Bardet Biedl syndrome
- metabolic disorders
14
Q
Features of neurofibromatosis type 1
A
- Cafe au lait spots >5
- inguinal and axillary freckling
- Lisch nodules
- Plexiform neurofibroma
- specific bone abnormalities (tibial pseudoarthrosis)
- increased tumor risk
- LD/ ADHD
15
Q
X-linked disorders
A
- Duschenne muscular dystrophy
- Haemophilia A/B
- Fragile X syndrome
