Genetic Disorders — Flashcards

Flashcard 1: _____ coined the term cellular pathology

Answer: Rudolf Virchow

Flashcard 2: Amyloid staining:Metachromatic stains like _____ and methyl violet give a rose-pink appearance.

Answer: crystal violet

Flashcard 3: Osteopetrosis is due to mutation in the _____ gene leading to defective bone resorption

Answer: CLCN7

Flashcard 4: Sago spleen is due to deposition of amyloid in follicles of _____ pulp.

Answer: white

Flashcard 5: In Array based Comparative Genomic Hybridization, if the test sample has amplification, then some spots on the array will fluoresce _____.

Answer: green

Flashcard 6: The preferred initial biopsy or aspiration site for the diagnosis of systemic amyloidosis is the _____

Answer: abdominal fat pad (aspirate)

Flashcard 7: Galactosemia is associated with _____ cataract

Answer: oil-drop

Flashcard 8: What type of cells are the following examples? _____

Answer: Permanent

Flashcard 9: What is the staining method? _____

Answer: Osmium tetroxide

Flashcard 10: _____ monitor precision and accuracy; R-charts monitor only precision.

Answer: LJ charts

Extra: LJ = Levey-Jennings; R-chart = Range chart.