Genetic conditions Flashcards
Give 6 features of down’s syndrome
- Hypotonia
- Face : upsloping palpebral fissures, prominent epicanthic folds, brushfield spots in iris
- Short neck, short stature & low set ears
- Brachycephaly : small head, flat at the back
- Single palmar crease
- Duodenal atresia and hirschsprung
Give 5 cardiac complications of down’s
- ASD
- VSD
- TOF
- PDA
- Atroventricular septal defect / endocardial cushion
Give 8 complications people with Down’s are at a higher risk of
-Dementia
-ALL
-Recurrent otitiss media + glue ear
-Deafness
-Learning difficulties
-Subfertility
-Antlantoaxial instability
-Hypothyroid
Give 5 features of Klinefelter’s
-Taller
-Wide hips
-Gynaecomastia
-Small testicles
-Lack of secondary sexual characteristics
47XXY
Give 4 features of turner’s
- Short stature
- Wide spaced nipples
- Webbed neck
- Primary amenorrhoea
45XO
Give 2 cardiac complications of turner’s
LEFT SIDE OF THE HEART
-Bicuspid aortic valve
-Coarctation of the aorta = ejection systolic murmur
Give 5 features of noonan syndrome
- Triangular face shape
- Hypertelorium
- Short stature
- Webbed neck
- Widely spaced nipples
N = z = 2 = chromosome 12
Give 3 cardiac complications of Noonan’s
RIGHT SIDE OF THE HEART
ASD
Pulmonary stenosis
Hypertrophic cardiomyopathy
Give 4 complications of Noonan’s syndrome
- Crytorchidism = infertility
- Bleeding disorders = Factor XI deficiency
- Increased risk of leukaemia and neuroblastoma
Give 5 features of Marfan’s syndrome
- Tall stature
- Long neck, limbs and fingers
- High arch palate
- Hypermobility
- Pectus carinatum or excavatum
Give 3 cardiac complicaitons of Marfan’s
Mitral valve prolapse (w regurg)
Aortic valve prolapse (w regurg)
Aortic dissection / aneurysms
Give 4 features of fragile X
Large ears
Long, narrow face
Learning difficulties
Macroorchidism after puberty
what is a cardiac complication of fragile X
Mitral valve prolapse
Give 4 features of prada-willi
Insatiable hunger
Hypotonia
Dysmorphic features
Learning disability
Give 5 features of angelmans
Fascination with water
Happy demeanour
Wide mouth and widely spaced teeth
Inappropriate laughter
Hand flappinh
Give 4 features of william’s syndrome
Very friendly and social
Starburst eyes
Elfin-like facies
Wide mouth and widely spaced teeth
Chromosome 7
What is a cardiac complication of William’s syndrome
Supravalvular aortic stenosis (W = VV)
Give 3 other complications of William’s syndrome
Hypercalcaemia
HTN
ADHD
Give 2 complications of prader-willi
Childhood obesity
Hypogonadism and infertility
Give 4 features of edward’s syndrome
Micrognathia
Low set ears
Rocker bottom feet
Overlapping of fingers
TRISOMY 18
Give 4 features of patau syndrome
- Polydactyly (e.g. 13 = trisomy 13)
- Cleft lip / palate
- Microcephalic, small eyes
- Scalp lesions
All the P’s
Give 3 features of cri du chat syndrome
- Characteristic cry
- Feeding difficulty, poor weight gain and learning difficulties = too busy crying
Edwards
Rocker bottom feet
Overlapping fingers
Trisomy 18
what is the inheritance of noonan’s
- Autosommal dominant
what is the inheritance of marfan’s
- Autosommal dominant
- Chromosome 15
what is the inheritance of prader-willi
- genetic imprinting -> gene delated from father
- chromosome 15
what is the inheritance of angelman
genetic imprinting -> gene deleted from mother
what chromosome is involved in williams
chromosome 7
Explain the inheritance of di George
22q11 deletion
How does Di George present
- Hypocalcaemia : parathyroid aplasia/hypoplasia
- Recurrent infections : T cell deficiency due to thymus aplasia
what cardiac abnormality is seen in Di george
- Interrupted aortic arch
