Genetic disorders US Medical PG Flashcards - Medical Study Cards
Master Genetic disorders with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Genetic disorders Flashcard Deck - 17 Cards
Flashcard 1: Hunter's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate mild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly
+ aggressive behavior
- corneal clouding
XR iduronate sulfatase
Flashcard 2: Hurler's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly AR α-L-iduronidase
Flashcard 3: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?
Answer: cardiac, palate, facial defects
Flashcard 4: Williams syndrome
Answer:
Extra: elfin facies, mild retardation, hyper-verbal, hyper-friendly, diverse cardiovascular problems hypercalcemia 7q microdeletion (including elastin gene)
Flashcard 5: Prader-Willi syndrome
Answer:
Extra: mental retardation, hyperphagia, obesity, hypogonadism, hypotonia imprinting disease; defect in the paternal genes paternal chromosome 15
Flashcard 6: X-linked recessive
Answer: yes, but only through females
Extra: many more males affected no male-to-male transmission
Flashcard 7: cystic fibrosis (CF)
Answer:
Extra: defective Cl- channel leads to thick mucus that is difficult to clear, and promotes infection recurrent pulmonary infections, chronic bronchitis, bronchiectasis, pancreatic insufficiency, nasal polyps, meconium ileus, infertility in males increased [Cl-] in sweat test N-acetylcysteine, mucus clearing exercises whites AR CFTR
Flashcard 8: What is the most common lethal genetic disease in whites?
Answer: cystic fibrosis
Flashcard 9: Duchenne's muscular dystrophy (DMD)
Answer:
Extra: accelerated muscle breakdown weakness beginning in pelvis and progressing superiorly, pseudohypertrophy of calf muscles, use of Gower maneuver to stand increased serum CPK (creatinine kinase) cardiac myopathy XR DMD (dystrophin)
Flashcard 10: How do Duchenne's and Becker's muscular dystrophies differ clinically?
Answer: DMD more severe and earlier onset (<5 y/o)
BMD less severe and later onset (adolescence or early adulthood)
Flashcard 11: Fragile X syndrome
Answer:
Extra: macroorchidism, long face, large jaw, large ears, autism, mitral valve prolapse XD, triplet repeat disorder (CGG repeats in) FMR1 mnemonic: X-Girlfriend's First Aid Helped Ace My Test
Flashcard 12: achondroplasia
Answer:
Extra: dwarfism with short limbs, large head, normal torso advanced paternal age AD FGF-3
Flashcard 13: Down syndrome
Answer: 95% due to nondisjunction but my be due to Robertsonian translocation or mosiacism
Extra: mental retardation, flat face, prominent epicanthal folds, simian crease, gap between first two toes pregnancy quad screen:
increased - β-hCG, inhibin A
decreased - α-fetoprotein, urine estriol
ultrasound: increased nuchal translucency in first trimester
nearly normal lifespan but early Alzheimer's disease advanced maternal age trisomy 21
Flashcard 14: Individuals with Down syndrome are predisposed to develop what conditions?
Answer: ALL and early onset Alzheimer's disease
Flashcard 15: What disease is most classically associated with meiotic nondisjunction?
Answer: Down syndrome (trisomy 21)
Flashcard 16: A child presents with a recessive disorder when only one parent is a carrier. What are three possible explanations?
Answer: infidelity, uniparental disomy, sporadic mutation
Flashcard 17: osteogenesis imperfecta
Answer:
Extra: multiple unexplained fractures, blue sclerae, hearing loss, dental defects (may be confused with child abuse) usually AD glycosylation step of Type I collagen synthesis
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