Week 5: Arcadia Medical Genetics

Question 1

First-line test for children with global DD/ID/ASD of unknown cause

Answer 1

Fragile X DNA analysis, microarray

Question 2

Inheritance of Fragile X syndrome

Answer 2

XLR

Question 3

Gene for Fragile X syndrome

Answer 3

FMR1

Question 4

Trinucleotide repeat in Fragile X

Answer 4

CGG

Question 5

3 major clinical features of Fragile X

Answer 5

Variable ID, ASD, attention/anxiety problems

Question 6

Dysmorphic features in Fragile x

Answer 6

Long face, prominent ears, enlarged testicles

Question 7

Fragile X premutation carriers are at risk for

Answer 7

FXPOI, FXTAS

Question 8

Fragile X premutation repeat number

Answer 8

55-200

Question 9

Fragile X full mutation repeat number

Answer 9

200+

Question 10

CGG repeats in Fragile X are more likely to expand if passed through mom or dad?

Answer 10

Mom

Question 11

Inheritance of Marfan Syndrome

Answer 11

AD

Question 12

Gene in Marfan syndrome

Answer 12

FBN1

Question 13

3 major features of Marfan Syndrome

Answer 13

Cardio: aortic root dilation, skeletal: tall/pectus/scoliosis, Eye: ectopic lentis

Question 14

Lung and CNS manifestations of Marfan syndrome

Answer 14

Pneumothorax, dural ectasia

Question 15

What gene deletion in 22q11 is most responsible for CHD

Answer 15

TBX1

Question 16

3 common CHDs in 22q11

Answer 16

interrupted aortic arch, truncus arteriosus, ToF

Question 17

What sign in pregnancy might make you suspicious of 22q11

Answer 17

polyhydramnios

Question 18

3 major facial features in 22q11

Answer 18

Hooded eyelids, asymmetric crying facies, prominent nasal root

Question 19

Endocrine abnormalities in 22q

Answer 19

Hypocalcemia, hypoparathyroidism

Question 20

Most common psych illness in 22q

Answer 20

Schizophrenia

Question 21

Inheritance of CF

Answer 21

AR

Question 22

Gene for CF

Answer 22

CFTR

Question 23

3 major features of CF

Answer 23

Pulmonary disease (recurrent infections), pancreatic insufficiency, CBAVD

Question 24

Class I. II, III mutations

Answer 24

absent CFTR function, more severe, pancreatic insufficient

Question 25

Class IV, V mutations

Answer 25

Partial CFTR function, less severe, pancreatic sufficient

Question 26

WT/severe mutation with 7T or 9T tract

Answer 26

Unaffected carrier

Question 27

WT/severe mutation with 5T tract

Answer 27

CBAVD

Question 28

Mild/severe mutation with 9T tract

Answer 28

CBAVD

Question 29

Mild/severe mutation with 5T tract

Answer 29

pancreatic sufficient CF

Question 30

Positive sweat test

Answer 30

> 60 meq/L

Question 31

Negative sweat test

Answer 31

<40 meq/L

Question 32

Treatment for CF

Answer 32

Pancreatic enzymes, antibiotics, lung clearance techniques