Questions from EC need to know

Question 1

What cancer is the greatest risk in Muir Torre syndrome

Answer 1

CRC

Question 2

What karyotype result is cystic placenta associated with ?

Answer 2

triploidy

Question 3

How is the phenotype different for diandric vs digynic triploidy?

Answer 3

diandric: large and cystic placenta results in SAB
digynic: small placenta with IUGR, fetus can be liveborn

Question 4

What chromosomes are most frequently affected by UPD?

Answer 4

15 most
11, 7, 14, 16

Question 5

What amino acids elevated with MSUD?

Answer 5

I Love Vermont
isoleucine, leucine, valine

Question 6

What is elevated for someone with maternal diabetes?

Answer 6

HbA1c

Question 7

What is a common cause of death for Pompe disease?

Answer 7

respiratory distress and cardiomyopathy

Question 8

What is thanatophoric dysplasia NOT associated with: hydrocephalus, polydactyly, rib anomalies, cloverleaf skull?

Answer 8

polydactyly

Question 9

For NF1, would an exam be performed with a wood lamp or slit lamp?

Answer 9

Slit lamp- NF1

wood lamp- TSC

Question 10

For TSC, would a skin exam be performed with a wood lamp or slit lamp?

Answer 10

Wood lamp- TSC

slit lamp- NF1

Question 11

For an extremely high AFP in pregnancy, what should be tested?

Answer 11

maternal liver - possibility of liver cancer

Question 12

What percent of individuals with late onset Tay Sachs disease experience psychiatric manifestations including psychosis?

Answer 12

up to 40%

Question 13

What is particular about testing for Tay Sachs if a patient is pregnant or on birth control?

Answer 13

biochemical testing must be performed on leukocytes

Question 14

What is the main characterization of urea cycle disorders?

Answer 14

hyperammonemia

Question 15

When is closure of the neural tube?

Answer 15

4-6 weeks GA

Question 16

What is the expected phenotype for two classic CFTR alleles?

Answer 16

classic&raquo_space; non classic

Question 17

What is the expected phenotype for one mild CFTR allele and one mild or classic CFTR allele?

Answer 17

non-classic > classic

Question 18

What is the expected phenotype for one R117H /5T CFTR allele and one classic or mild allele?

Answer 18

non-classic > classic

Question 19

What is the expected phenotype for one R117H /7T CFTR allele and one classic or mild allele?

Answer 19

asymptomatic female or CBAVD > non-classic

Question 20

What is the expected phenotype for one 5T /TG 13 or 12 CFTR allele and one classic or mild allele?

Answer 20

CAVD or non-classic&raquo_space; asymptomatic carrier

Question 21

What is the expected phenotype for one 5T /TG 11 CFTR allele and one classic or mild allele?

Answer 21

asymptomatic > CAVD

Question 22

What is the expected phenotype for one 7T or 9T CFTR allele and one classic or mild allele?

Answer 22

asymptomatic

Question 23

If a patient has one classic or mild CFTR allele, in what cases of the second allele would you expected them to be asymptomatic ?

Question 24

What two conditions are characterized by self injurious behavior? How are they inherited?

Answer 24

Lesch Nyhan- XL
Smith Magenis - chr 17 del