Literature Quiz / Block 8C Genetic Week 2

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QUIZ: Can you name the Block 8C Genetic Week 2?

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2 ultra sound findings for Down's syndrome?
Sensitive haplotype A for warfarin is most common in what ethnic group?
Most common disease-producing enzyme defect
Neck mass and hearing loss?
Crystal-blue eyes, eyes are different colors, hearing loss?
Most common skeletal dysplasia?
What drugs deplete RBCs of those with G6PD deficiency of glutathione
Which infection: microcephaly, deafness, intellectual disability, cataracts, cardiac problems?
What gene is responsible for the enzyme warfarin acts on?
How many types of hearing loss are there? (spell the number out)
Pregnancy complication with Ehler's-Danlos?
What product has lower serum values in aneuploid pregnancies?
Which infection: Severe microcephaly and intracranial calcifications
Which collagen type is abundant in skin, bone, tendon, and arteries?
Common gene mutated in non-syndromic hearing loss?
Syndrome? Autosomal dominant Long QT
Are carboxy or amino end mutations in collagen more severe?
Which condition is generally not detected by maternal serum screening during the 2nd trimester of pregnancy?
Tremors of the iris due to subluxation of the lens
What are slow N-acetyl transferase inactivators at risk for with INH therapy?
What kind of test: Serum test for AFP and hCG in 26 y/o in her 2nd trimester?
How to overcome SNPs in the VKORC1 gene that increase its activity?
What drug do we use to treat acute intermitten porphyria?
T/F: Treatment is conservative for achondroplasia?
2 tests for Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Short stature, bone deformities, hearing loss, recurrent fractures?
NIPT is a _____ test
Point mutation test
T/F: Maternal age matters with neural tube and abdominal wall defects
Adverse response to halothane or succinylcholine?
Which category do drugs fall in that are absolutely contraindicated in pregnancy?
Which stage is most susceptible malformation during organogenesis due to a teratogen?
Normal structure changed by mechanical forces
Most common cardiac finding in DiGeorge syndrome?
Next-generation sequencing is good for what?
What drug helps prevent aortic root problems in those with Marfan's?
Inheritance pattern for achondroplasia?
Screens many genes
Where do most drugs fall in for pregnancy drug category?
What disease has a mutation in FGFR3?
What kinds of proteins are mutated to cause HOCM?
Hypermobile joints and skin elasticity & fragility
Genes involved in Jervell or Lange-Nielsen?
Smooth philtrum, short distal phalanges, corpus callosum agenesis, intellectual disability, VSD/ASD?
Most common cardiac finding in Noonan syndrome?
Most common physical agent causing fetal growth problems?
Diabetic, increased skin pigmentation, joint pain?
Teratogen? Cardiac conotruncal defect, central nervous anomaly, craniofacial defect
What is the most common genetic predisposition to Coronary artery disease?
Blue sclera, many fractures
What day post-conception does thalidomide stop being teratogenic?
Name 1 type of phase II drug metabolism reaction?
Hearing loss, oozing pit on neck, missing kidney, pit on ear?
Translucent skin, prominent veins, bowel and arterial ruptures?
Neural tube defects, holoprosencephaly, sacral agenesis?
What cancer drug has decreased metabolism with UGT1A1 deficiency?
Sequence all exons
Should you consider an invasive prenatal test if you get an abnormal serum screening result?
Which infection: limb deficiencies, scars
Homozygotes for A of what enzyme cause prolonged paralysis after succinylcholine admin?
Which prenatal study would give you the least information regarding the presence or absence of meningomyelocele in a fetus?
Difference between cells obtained from CVS and amniocentesis is called what?
Trisomy test
What should be avoided if someone with OI is taking bisphosphanates?
What gene family encodes cytochrome p450 enzymes?
Syndrome? Autosomal recessive Long QT
What enzyme is low in dilantin/hydantoin teratogenicity?
What peptide might be able to increase bone growth in those with achondroplasia?
Gene mutated in Marfan's?
Which kind of ossification is responsible for long bone formation?
What happens if someone with a defective CYP2D6 takes codeine for pain?
Microdeletion/microduplication testing
What kind of test: mom had breast cancer, she has BRCA1, daughter wants to get tested
All kids with autosomal recessive non-syndromic hearing loss should be what?
Sequence entire genome
Which gene is responsible for up to 40% of drug metabolism?
Non-syndromic hearing loss is genetically _____?
What product has higher serum values in trisomy 21 and lower in trisomy 18 and 13 pregnancies?
Example of a disruption (birth defect)
Example of a condition that can be diagnosed with chorionic villus sampling?
Triplet repeat testing
Common mutations of TPMT causes over-efficacy and toxicity of what cancer drug?
Teratogen? Baby with skeletal abnormalities, shortening of limbs, hypoplasia of nose, & stippling of epiphysis?
Structural defect from an intrinsically abnormal developmental process?
Which infection: Microcephaly, retinitis
Night blindness, hearing loss, retinitis pigmentosa?
What artery persists leading to sirenomelia?
Which can you do earlier in the pregnancy: Amniocentesis or CVS?
Muscle spasticity and weakness, difficulty swallowing, drooped face?
What gene is involved in 70% of clinical malignant hyperthermia cases?
2 genes that cause hereditary hemochromatosis?
Slow acetylators have a syndrome that mimics what?
Long QT, hearing loss, and sudden death in the family?
Which is better for checking for neural tube defects: Amniocentesis or CVS
Which OI type is lethal at birth?

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