Genetics

Question 1

Trisomy 21 manifestations

Answer 1

Heart (40% of cases):
Atrial and ventricular septal defects
Common atrioventricular canal
Patent ductus arteriosus

Other: protruding tongue, small ears, inclination of fingers

Question 2

Syndrome of 22q11 microdeletion manifestations

Answer 2

Parathyroid hypoplasia (hypocalcemia)
Thymus hypoplasia (immune deficiency)
Malformations
Heart malformations (75%): ventricular septal defect, interrupted aortic arch

Question 3

Syndrome of 22q11 microdeletion inheritance pattern

Answer 3

autosomal dominant

Question 4

Mitochondrial disorder inheritance pattern

Answer 4

maternal inheritance only

Question 5

Fabry disease manifestations

Answer 5

cardiomyopathy
can be caught in adults
cardiology, ophtalmology, neurology and nephrology workups

managed with enzyme replacement therapy (ERT)

Question 6

Fabry disease inheritance pattern

Answer 6

X-linked

Question 7

Fabry disease type of disease

Answer 7

lysosomal storage disorder

Question 8

Noonan syndrome manifestations

Answer 8

Wide spaced eyes, droopy eyelids, broad neck, spaced and low nipples.

50-80% have cardiac defect (pulmonary stenosis).

Defect in RASk signalling.

Question 9

Noonan syndrome inheritance pattern

Answer 9

autosomal dominant

Question 10

Marfan syndrome manifestations

Answer 10

tall, long limbs and arachnodactyly
involvement of skeletal, cardiac and ocular systems
dilatation of the ascending aorta or other aortas

Question 11

Marfan syndrome inheritance pattern

Answer 11

autosomal dominant

Question 12

3 autosomal dominant syndromes

Answer 12

22q11 microdeletion
Marfan syndrome
Noonan syndrome