Autosomal Trisomies

Question 1

trisomy associated with Down syndrome

Answer 1

• trisomy 21

Question 2

trisomy associated with Edward’s syndrome

Answer 2

• trisomy 18

Question 3

trisomy associated with Patau’s syndrome

Answer 3

• trisomy 13

Question 4

Presentation of Down syndrome

Answer 4

• MR, flat facies, prominent epicanthal folds, simian crease, gap between 1st 2 toes, duodenal atresia, congenital heart disease

Question 5

2 diseases with increased risk with having Down syndrome

Answer 5

• ALL and Alzheimer’s

Question 6

Pregnancy quad screen for Down syndrome

Answer 6

• decreased alpha-fetoprotein
• increased beta-hCG
• decreased estriol
• increased inhibin A

Question 7

presentation of Edward’s syndrome

Answer 7

• severe MR, rocker-bottom feet, micrognathia, low set ears, clenched hands with overlapping fingers, prominent occiput, congenital heart disease

Question 8

pregnancy quad screen for Edward’s syndrome

Answer 8

• decreased alpha-fetoprotein
• decreased beta-hCG
• decreased estriol
• normal inhibin A

Question 9

presentation of Patau’s syndrome

Answer 9

• severe MR, rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease

Question 10

pregnancy screen for Patau’s syndrome

Answer 10

• decreased free beta-hCG
• decreased PAPP-A
• increased nuchal translucency