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 - 10 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)
Keywords: Genetic disorders flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
