Literature Quiz / Block 8C Genetic Week 2

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Can you name the Block 8C Genetic Week 2?

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

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