A ring chromosome is denoted by the symbol _____ in human genetics.
#2
A _____ score is calculated using the molecular tests for breast cancer, ranging from 0-100
#3
What is the mode of inheritence of Naxos syndrome?_____
#4
Translocation in Philadelphia chromosome is best studied by using _____
#5
_____ is a molecular test in breast cancer that is a 70-gene assay
#6
How can a Robertsonian translocation cause chromosomal imbalance in offspring? _____
#7
_____ syndrome is due to an inherited defect in DNA mismatch repair enzymes, resulting in microsatellite instability
#8
_____ disease is due to a deletion of the VHL gene on chromosome 3p, leading unregulated activity of HIF1a
#9
Mutations that cause _____ of the HER2 receptor can precipitate development of certain Breast* and Gastric* Cancers by amplifying the signal transduction
#10
_____ syndrome is most commonly characterized by a 47,XXY karyotype
Genetic Counseling and Risk Assessment Indian Medical PG Flashcards - Medical Study Cards
Master Genetic Counseling and Risk Assessment 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 and Risk Assessment Flashcard Deck - 10 Cards
Flashcard 1: A ring chromosome is denoted by the symbol _____ in human genetics.
Answer: r
Flashcard 2: A _____ score is calculated using the molecular tests for breast cancer, ranging from 0-100
Answer: recurrence
Flashcard 3: What is the mode of inheritence of Naxos syndrome?_____
Answer: Autosomal dominant
Flashcard 4: Translocation in Philadelphia chromosome is best studied by using _____
Answer: SKY
Flashcard 5: _____ is a molecular test in breast cancer that is a 70-gene assay
Answer: Mammaprint
Flashcard 6: How can a Robertsonian translocation cause chromosomal imbalance in offspring? _____
Answer: A gamete with the mutated chromosome is passed on (e.g. gamete with t(14
Flashcard 7: _____ syndrome is due to an inherited defect in DNA mismatch repair enzymes, resulting in microsatellite instability
Answer: Lynch
Flashcard 8: _____ disease is due to a deletion of the VHL gene on chromosome 3p, leading unregulated activity of HIF1a
Answer: Von Hippel-Lindau
Flashcard 9: Mutations that cause _____ of the HER2 receptor can precipitate development of certain Breast* and Gastric* Cancers by amplifying the signal transduction
Answer: overexpression
Flashcard 10: _____ syndrome is most commonly characterized by a 47,XXY karyotype
Answer: Klinefelter
Keywords: Genetic Counseling and Risk Assessment flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
Want unlimited flashcards?
Get full access to all flashcards, spaced repetition, and progress tracking.
