Genetic conditions

Question 1

What genetic abnormality is seen in Patau syndrome?

Answer 1

Trisomy 13

Question 2

What genetic abnormality is seen in Edwards syndrome?

Answer 2

Trisomy 18

Question 3

What syndrome present with microcephaly, cleft palate, polydactyly and dextrocardia?

Answer 3

Patau syndrome

Question 4

What syndrome presents with micrognathia, low-set ears and rocker-bottom feet?

Answer 4

Edwards syndrome

Question 5

What syndrome presents with a long face and ears, macrocephaly and macro-orchidism?

Answer 5

Fragile X

Question 6

What syndrome presents with a webbed neck, short stature and pectus excavatum?

Answer 6

Noonan syndrome

Question 7

What congenital heart abnormality is seen in Noonan syndrome?

Answer 7

Pulmonary stenosis

Question 8

What syndrome may present with micrognathia and a posterior tongue?

Answer 8

Pierre-Robin and Treacher-Collins syndrome

Question 9

What syndrome presents with hypotonia and hypogonadism?

Answer 9

Prader-Willi

Question 10

What disease presents with a short stature and transient neonatal hypercalcaemia?

Answer 10

Williams syndrome

Question 11

What syndrome presents with a friendly/extroverted personality?

Answer 11

Williams

Question 12

What congenital heart disease occurs in Williams?

Answer 12

Supravalvular aortic stenosis

Question 13

What disease presents with a characteristic cry?

Answer 13

Cri du chat

Question 14

What syndrome presents with primary ciliary dyskinesia and dextrocardia?

Answer 14

Kartagener’s

Question 15

What is the prognosis for Patau syndrome?

Answer 15

Approx 3 days survival

Question 16

What syndrome presents with short stature, webbed neck and wide-spaced nipples?

Answer 16

Turner’s

Question 17

What congenital cardiac abnormality may be seen in Turner’s?

Answer 17

Bicuspid aortic valve

Coarctation of the aorta