Paeds genetic syndromes Flashcards
What is the chromosomal abnormality in Turner Syndrome?
45 X
What is the chromosomal abnormality in Down Syndrome?
Trisomy 21
What is the chromosomal abnormality in Patau Syndrome?
Trisomy 13
What is the chromosomal abnormality in Edward’s Syndrome?
Trisomy 18
What is the chromosomal abnormality in Klinefelter Syndrome?
47 XXY
What is the chromosomal abnormality in Di George Syndrome?
22q11 deletion
What are 3 features of Klinefelter syndrome?
- Tall
- Small testes
- Gynaecomastia
What are 2 features of Di George Syndrome? What do these cause?
- Parathyroid aplasia - hypocalcaemia
- Thymus aplasia - T cell deficiency -> recurrent infections
What are 4 features of Angelmann Syndrome?
- Frequent laughing
- Happy demeanour
- Hand flapping
- Seizures
What are 2 features of Williams syndrome?
- Overly friendly
- Hypercalcaemia
What condition do you get Pectus excavated/carinatum in?
Nonnan Syndrome
What condition do you get a horse shoe kidney in?
Turner Syndrome
What condition do you get fused kidneys in?
Patau Syndrome
What condition do you get late walking and speech delay?
Duchenne Muscular Dystrophy
What condition do you get developmental regression after 1 year?
Rett Syndrome
What 2 conditions do you get genomic imprinting in?
- Prader Willi Syndrome
- Angolan Syndrome
What surgical condition is strongly associated with Down’s syndrome? What is one sign of this in pregnancy? What are 2 signs of this after birth?
- Duodenal atresia
- Polyhydramnios
- Bilious vomiting, double bubble sign on AXR
What type of leukaemia is associated with Down’s syndrome?
AML
What is the inheritance pattern of Marfans Syndrome?
AD
What 4 cardiac defects are common in Downs Syndrome?
- ASD
- VSD
- PDA
- TOF
What aspects of the heart are typically affected in Turner’s syndrome?
- Left side of heart
- Aorta
What 4 cardiac defects are common in Turner’s syndrome?
- Bicuspid aortic valve
- Coarctation of the aorta
- Aortic stenosis
- Hypoplastic left heart syndrome
What 4 cardiac defects are associated with Noonan’s syndrome?
- Pulmonary valve stenosis
- Hypertrophic cardiomyopathy
- ASD
- VSD
What are 3 cardiac complications of Marfan syndrome?
- Mitral valve prolapse
- Aortic valve prolapse
- Aortic aneurysm
What 2 heart defects do you get in William syndrome?
- Supravalvular aortic stenosis
- Peripheral pulmonary branch stenosis
What 3 heart defects do you get in Di George syndrome?
- Aortic arch abnormalities
- Truncus arteriosus
- TOF
What genetic conditions are common associated with VSD?
Down’s syndrome, Turner’s syndrome
What genetic condition is associated with coarctation of the aorta?
Turner’s syndrome
