Genetic counseling principles US Medical PG Flashcards - Medical Study Cards
Master Genetic counseling principles 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 counseling principles Flashcard Deck - 10 Cards
Flashcard 1: Congenital defects are the _____ leading cause of death in children
Answer: 3rd
Flashcard 2: Is dysplastic kidney heritable? _____
Answer: No
Flashcard 3: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty
Answer: Kallmann
Flashcard 4: Patients with Edwards syndrome and Patau syndrome often die within _____ year(s) of birth
Answer: 1
Flashcard 5: What is the most common cause of genetic intellectual disability? _____
Answer: Down syndrome
Flashcard 6: Red flags for physical abuse include _____ inconsistent with degree or type of injury
Answer: history
Flashcard 7: 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 8: Hurler's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly AR α-L-iduronidase
Flashcard 9: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?
Answer: cardiac, palate, facial defects
Flashcard 10: Williams syndrome
Answer:
Extra: elfin facies, mild retardation, hyper-verbal, hyper-friendly, diverse cardiovascular problems hypercalcemia 7q microdeletion (including elastin gene)
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