Questions from EC need to know Flashcards
What cancer is the greatest risk in Muir Torre syndrome
CRC
What karyotype result is cystic placenta associated with ?
triploidy
How is the phenotype different for diandric vs digynic triploidy?
diandric: large and cystic placenta results in SAB
digynic: small placenta with IUGR, fetus can be liveborn
What chromosomes are most frequently affected by UPD?
15 most
11, 7, 14, 16
What amino acids elevated with MSUD?
I Love Vermont
isoleucine, leucine, valine
What is elevated for someone with maternal diabetes?
HbA1c
What is a common cause of death for Pompe disease?
respiratory distress and cardiomyopathy
What is thanatophoric dysplasia NOT associated with: hydrocephalus, polydactyly, rib anomalies, cloverleaf skull?
polydactyly
For NF1, would an exam be performed with a wood lamp or slit lamp?
Slit lamp- NF1
wood lamp- TSC
For TSC, would a skin exam be performed with a wood lamp or slit lamp?
Wood lamp- TSC
slit lamp- NF1
For an extremely high AFP in pregnancy, what should be tested?
maternal liver - possibility of liver cancer
What percent of individuals with late onset Tay Sachs disease experience psychiatric manifestations including psychosis?
up to 40%
What is particular about testing for Tay Sachs if a patient is pregnant or on birth control?
biochemical testing must be performed on leukocytes
What is the main characterization of urea cycle disorders?
hyperammonemia
When is closure of the neural tube?
4-6 weeks GA
What is the expected phenotype for two classic CFTR alleles?
classic»_space; non classic
What is the expected phenotype for one mild CFTR allele and one mild or classic CFTR allele?
non-classic > classic
What is the expected phenotype for one R117H /5T CFTR allele and one classic or mild allele?
non-classic > classic
What is the expected phenotype for one R117H /7T CFTR allele and one classic or mild allele?
asymptomatic female or CBAVD > non-classic
What is the expected phenotype for one 5T /TG 13 or 12 CFTR allele and one classic or mild allele?
CAVD or non-classic»_space; asymptomatic carrier
What is the expected phenotype for one 5T /TG 11 CFTR allele and one classic or mild allele?
asymptomatic > CAVD
What is the expected phenotype for one 7T or 9T CFTR allele and one classic or mild allele?
asymptomatic
If a patient has one classic or mild CFTR allele, in what cases of the second allele would you expected them to be asymptomatic ?
What two conditions are characterized by self injurious behavior? How are they inherited?
Lesch Nyhan- XL
Smith Magenis - chr 17 del
