Molecular diagnostic methods — Flashcards

Flashcard 1: _____ is a laboratory technique used to assess size, granularity, and protein expression of individual cells in a sample

Answer: Flow cytometry

Flashcard 2: A _____ is detected with FISH as no fluorescence on a chromosome compared to fluorescence at the same locus on the second copy of that chromosome

Answer: microdeletion

Flashcard 3: What laboratory technique is useful in determining CD4 cell count in HIV patients? _____

Answer: Flow cytometry

Flashcard 4: What RBC pathology is characterized by the following Hb electrophoresis findings:55% HbA, 43% HbS, and 2% HbA2 _____

Answer: Sickle cell trait

Flashcard 5: Is Sturge-Weber syndrome inherited or sporadic? _____

Answer: Sporadic (somatic mosaicism)

Flashcard 6: fat necrosis (breast)

Answer: fat necrosis and saponification following trauma (often mild or unremarkable trauma)

Extra: painless breast lump

Flashcard 7: The subtypes of fibrocystic disease of the breast are _____, _____, _____, and _____.

Answer: fibrosis

Flashcard 8: aplasia (organogenesis)

Answer: absent organ despite present primordial tissue

Flashcard 9: death

Answer: prolonged nutrient depletion and waste build-up leads to death

Extra: D

Flashcard 10: How do Duchenne's and Becker's muscular dystrophies differ genetically?

Answer: DMD is a frameshift mutation effectively deleting the gene. BMD is a partial loss of function mutation.