Literature Quiz / Block 8C Genetic Week 2

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Can you name the Block 8C Genetic Week 2?

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

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