Down Syndrome

Question 1

Names some ortho issues in DS patients.

Answer 1

Hip problems, joint subluxation, alantoaxial subluxation

Question 1

Name some endocrine issues in DS patients.

Answer 1

Thyroid disease (usually hypo), insulin-dependent diabetes, alopecia areata, reduced fertility

Question 2

What is the detection rate for DS in a second trimester screen?

Answer 2

80%

Question 2

clinodactyly

Answer 2

digit is curved in towards the palm

Question 3

DS is caused by an error of ______.

Answer 3

nondysjunction

Question 3

Risk of DS increases with increasing ________.

Answer 3

maternal age

Question 4

Name some ENT issues in DS patients.

Answer 4

chronic ear infections, deafness, chronic nasal congestion, enlarged tonsils and adenoids

Question 5

myopia

Answer 5

near sightedness

Question 5

Name some GI issues in DS patients.

Answer 5

structural anomalies, feeding problems, constipation, GERD, Celiac disease

Question 7

What are the physical features present at birth in DS patients?

Answer 7

midfacial hypoplasia, upslanting palpebral fissures*, epicanthal folds, small ears, large appearing tongue, low muscle tone, increased joint mobility, short fingers, transverse palmar crease, clinodactyly, increased space btw toes 1 and 2

Question 8

Unbalanced translocation between chromosome ___ and another acrocentric chromosome occurs in 3-4% of patients with DS.

Answer 8

21

Question 10

acrocentric chromosome

Answer 10

short arm is so short that it’s hard to observe; 6 human chromosomes (13, 14, 15, 21, 22, and Y)

Question 11

_____ is the most common chromosomal abnormality seen in liveborn infants.

Answer 11

DS

Question 13

The phenotype of Mosaic Tri 21 is usually ____.

Answer 13

mild

Question 14

What does a first trimester screen for DS look for?

Answer 14

nuchal folds + b-hCG (human chorionic gonadotropin) + PAPP-A (pregnancy-associated plasma protein A)

Question 15

95% of Down Syndrome is caused by ____.

Answer 15

trisomy 21

Question 16

What does a second trimester screen for DS look for?

Answer 16

quad screen - b-hCG (human chorionic gonadotropin), AFP (a-fetoprotein), unconjugated estriol, and inhibin level

Question 17

Mosaic Tri 21 is mixture of ____.

Answer 17

normal cells and cells containing Tri 21

Question 18

All types of cardiac anomalies may be present in DS, but ____ is very common.

Answer 18

Atrioventricular Canal

Question 19

What is the combined detection rate for DS in a first and second trimester screen?

Answer 19

95%

Question 20

subluxation

Answer 20

incomplete or partial dislocation

Question 21

nondysjunction

Answer 21

separation of chromosome pairs or chromatids

Question 22

Name some psychiatric issues in DS patients.

Answer 22

Depression, early Alzheimer’s, Autism

Question 23

Name some developmental issues in DS patients.

Answer 23

Hypotonia, moderate cognitive disability, speech problems

Question 25

epicanthal folds

Answer 25

skin fold of upper, innermost part of eyelid

Question 26

_________ between chromosome 21 and another acrocentric chromosome occurs in 3-4% of patients with DS.

Answer 26

Unbalanced translocation

Question 27

What is the detection rate for DS in a first trimester screen?

Answer 27

82-87%

Question 28

Name some hematologic issues in DS patients.

Answer 28

Myeloproliferative disorder in the newborn, increased risk of leukemia, iron deficiency anemia

Question 29

Name some ophthalmologic issues in DS patients.

Answer 29

blocked tear ducts, myopia, lazy eye, nystagmus, cataracts

Question 30

Name some neurological issues in DS patients.

Answer 30

hypotonia, seizures

Question 31

What is the DS incidence rate?

Answer 31

1/700

Question 32

Suspicion of DS is confirmed with ______ or _______.

Answer 32

chromosome analysis via amniocentesis; chorionic villus sampling

Question 33

Myeloproliferative disorder in the newborn

Answer 33

uncontrolled proliferation of myeloblasts