McCune-Albright syndrome is due to a mutation affecting _____ signaling
#2
Autosomal _____ diseases are often pleiotropic and variably expressive
#3
5% of cases of Angelman syndrome are due to _____ uniparental disomy
#4
_____ is the presence of both normal and mutated mtDNA, resulting in variable expression of a mitochondrially inherited disease
#5
What is the mode of inheritance of Marfan syndrome?_____
#6
25% of cases of Prader-Willi syndrome are due to _____ uniparental disomy
#7
What class of diseases is myotonic dystrophy a part of?_____
#8
If a father has a mitochondrial disease, all his children are _____
#9
What triplet is associated with Huntington's disease?
#10
What triplet is associated with Fragile X syndrome?
Non-Mendelian inheritance US Medical PG Flashcards - Medical Study Cards
Master Non-Mendelian inheritance 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.
Flashcard 1: McCune-Albright syndrome is due to a mutation affecting _____ signaling
Answer: G-protein
Flashcard 2: Autosomal _____ diseases are often pleiotropic and variably expressive
Answer: dominant
Flashcard 3: 5% of cases of Angelman syndrome are due to _____ uniparental disomy
Answer: paternal
Flashcard 4: _____ is the presence of both normal and mutated mtDNA, resulting in variable expression of a mitochondrially inherited disease
Answer: Heteroplasmy
Flashcard 5: What is the mode of inheritance of Marfan syndrome?_____
Answer: Autosomal dominant
Flashcard 6: 25% of cases of Prader-Willi syndrome are due to _____ uniparental disomy
Answer: maternal
Flashcard 7: What class of diseases is myotonic dystrophy a part of?_____
Answer: Trinucleotide repeat expansion diseases
Flashcard 8: If a father has a mitochondrial disease, all his children are _____
Answer: unaffected
Flashcard 9: What triplet is associated with Huntington's disease?
Answer: CAG
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Flashcard 10: What triplet is associated with Fragile X syndrome?
Answer: CGG
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Non-Mendelian inheritance Flashcards for USMLE
Study 10 flashcards on Non-Mendelian inheritance for USMLE Biochemistry. These active recall cards cover the key concepts, clinical associations, and high-yield facts from this chapter of Molecular Genetics. Each card is designed to test your understanding rather than just recognition, building stronger and more durable memories for exam day.
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