Genetic Counseling and Risk Assessment — Flashcards

A ring chromosome is denoted by the symbol _____ in human genetics.

A _____ score is calculated using the molecular tests for breast cancer, ranging from 0-100

What is the mode of inheritence of Naxos syndrome?_____

Translocation in Philadelphia chromosome is best studied by using _____

_____ is a molecular test in breast cancer that is a 70-gene assay

How can a Robertsonian translocation cause chromosomal imbalance in offspring? _____

_____ syndrome is due to an inherited defect in DNA mismatch repair enzymes, resulting in microsatellite instability

_____ disease is due to a deletion of the VHL gene on chromosome 3p, leading unregulated activity of HIF1a

Mutations that cause _____ of the HER2 receptor can precipitate development of certain Breast* and Gastric* Cancers by amplifying the signal transduction

_____ syndrome is most commonly characterized by a 47,XXY karyotype