Down Syndrome

Question 1

Down Syndrome genotype

Answer 1

Trisomy 21

Caused by meiotic nondisjunction

Question 2

% coming from nondisjunction in maternal gamete

Answer 2

88%

Question 3

Familial Down Syndrome

Answer 3

Translocation Down Syndrome

Not distinguishable clinically

Question 4

2nd most common Autosomal trisomy

Answer 4

Edwards Syndrome-Trisomy 18

Question 5

Approach should be nondirective

Answer 5

Nondirective information enables patients to balance the risks, limitations, and benefits of prenatal screening with the issues involved in raising a child with a chromosomal abnormality or pregnancy termination

Question 6

Screening tests for DS

Answer 6

Maternal serum levels with or without assessment of specific ultrasound markers

Question 7

MaterniT21

Answer 7

• Non-invasive blood test with a high level of accuracy in detecting DS
• Cell-free fetal DNA screening

Question 8

Second trimester quadruple test measures

Answer 8

Level of 4 biochemical markers

Question 9

DS physical findings of head and neck

Answer 9

Upslanting palpebral fissures
Flat facial profile/flat nasal bridge
Folded or dysplastic ears
Low-set small ears
Brachycephaly (short head)

Question 10

Syntax

Answer 10

Average sentence length and structure

Question 11

Cognitive deficits

Answer 11

Primarily in morphosyntax, verbal short-term memory, and explicit long term memory

Question 12

Down Syndrome Heart Disease

Answer 12

Approx. 1/2 of individuals with DS have congenital heart disease

Question 13

Atlantoaxial instability

Answer 13

• Excessive mobility of the articulation of the atlas and axis, can lead to subluxation
• 13% of individuals have asymptomatic AAI
• Important ER evaluation