Genetic testing approaches US Medical PG Flashcards - Medical Study Cards
Master Genetic testing approaches 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 testing approaches Flashcard Deck - 10 Cards
Flashcard 1: What microdeletion syndrome is associated with supravalvular aortic stenosis and renal artery stenosis?_____
Answer: Williams syndrome
Flashcard 2: When are patients screened for phenylketonuria?_____
Answer: 2-3 days after birth
Flashcard 3: What newborn screening blood test is used to screen for cystic fibrosis? _____
Answer: Immunoreactive trypsinogen
Flashcard 4: What pathology is associated with an enlarged jaw, testes, and ears?_____
Answer: Fragile X syndrome
Flashcard 5: What chromosomal abnormality is commonly associated with endocardial cushion defects? _____
Answer: Trisomy 21 (Down syndrome)
Flashcard 6: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty
Answer: Kallmann
Flashcard 7: Trisomy 21 is associated with _____, which are elevated white spots on the iris.
Answer: Brushfield spots
Flashcard 8: What trinucleotide repeat disorder is associated with autism?_____
Answer: Fragile X syndrome
Flashcard 9: What is the second most common cause of genetic intellectual disability? _____
Answer: Fragile X syndrome (#1 is Down syndrome)
Flashcard 10: Hunter's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate mild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly
+ aggressive behavior
- corneal clouding
XR iduronate sulfatase
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