Paeds genetic syndromes

Question 1

What is the chromosomal abnormality in Turner Syndrome?

Answer 1

45 X

Question 2

What is the chromosomal abnormality in Down Syndrome?

Answer 2

Trisomy 21

Question 3

What is the chromosomal abnormality in Patau Syndrome?

Answer 3

Trisomy 13

Question 4

What is the chromosomal abnormality in Edward’s Syndrome?

Answer 4

Trisomy 18

Question 5

What is the chromosomal abnormality in Klinefelter Syndrome?

Answer 5

47 XXY

Question 6

What is the chromosomal abnormality in Di George Syndrome?

Answer 6

22q11 deletion

Question 7

What are 3 features of Klinefelter syndrome?

Answer 7

• Tall
• Small testes
• Gynaecomastia

Question 8

What are 2 features of Di George Syndrome? What do these cause?

Answer 8

• Parathyroid aplasia - hypocalcaemia
• Thymus aplasia - T cell deficiency -> recurrent infections

Question 9

What are 4 features of Angelmann Syndrome?

Answer 9

• Frequent laughing
• Happy demeanour
• Hand flapping
• Seizures

Question 10

What are 2 features of Williams syndrome?

Answer 10

• Overly friendly
• Hypercalcaemia

Question 11

What condition do you get Pectus excavated/carinatum in?

Answer 11

Nonnan Syndrome

Question 12

What condition do you get a horse shoe kidney in?

Answer 12

Turner Syndrome

Question 13

What condition do you get fused kidneys in?

Answer 13

Patau Syndrome

Question 14

What condition do you get late walking and speech delay?

Answer 14

Duchenne Muscular Dystrophy

Question 15

What condition do you get developmental regression after 1 year?

Answer 15

Rett Syndrome

Question 16

What 2 conditions do you get genomic imprinting in?

Answer 16

• Prader Willi Syndrome
• Angolan Syndrome

Question 17

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?

Answer 17

• Duodenal atresia
• Polyhydramnios
• Bilious vomiting, double bubble sign on AXR

Question 18

What type of leukaemia is associated with Down’s syndrome?

Answer 18

AML

Question 19

What is the inheritance pattern of Marfans Syndrome?

Answer 19

AD

Question 20

What 4 cardiac defects are common in Downs Syndrome?

Answer 20

1. ASD
2. VSD
3. PDA
4. TOF

Question 21

What aspects of the heart are typically affected in Turner’s syndrome?

Answer 21

• Left side of heart
• Aorta

Question 22

What 4 cardiac defects are common in Turner’s syndrome?

Answer 22

• Bicuspid aortic valve
• Coarctation of the aorta
• Aortic stenosis
• Hypoplastic left heart syndrome

Question 23

What 4 cardiac defects are associated with Noonan’s syndrome?

Answer 23

• Pulmonary valve stenosis
• Hypertrophic cardiomyopathy
• ASD
• VSD

Question 24

What are 3 cardiac complications of Marfan syndrome?

Answer 24

• Mitral valve prolapse
• Aortic valve prolapse
• Aortic aneurysm

Question 25

What 2 heart defects do you get in William syndrome?

Answer 25

• Supravalvular aortic stenosis
• Peripheral pulmonary branch stenosis

Question 26

What 3 heart defects do you get in Di George syndrome?

Answer 26

• Aortic arch abnormalities
• Truncus arteriosus
• TOF

Question 27

What genetic conditions are common associated with VSD?

Answer 27

Down’s syndrome, Turner’s syndrome

Question 28

What genetic condition is associated with coarctation of the aorta?

Answer 28

Turner’s syndrome