General Pathology — Flashcards

Flashcard 1: fat necrosis (breast)

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

Extra: painless breast lump

Flashcard 2: The subtypes of fibrocystic disease of the breast are _____, _____, _____, and _____.

Answer: fibrosis

Flashcard 3: aplasia (organogenesis)

Answer: absent organ despite present primordial tissue

Flashcard 4: death

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

Extra: D

Flashcard 5: 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.

Flashcard 6: Robertsonian translocation (genetics)

Answer: nonreciprocal translocation between two acrocentric chromosomes; long arms fuse and short arms are lost note: may be considered reciprocal since short arms are not lost during translocation event, but during successive cell divisions

Flashcard 7: Which chromosomes can undergo Robertsonian translocation?

Answer: acrocentric chromosomes: 13, 14, 15, 21, 22

Flashcard 8: What are FISH assays most useful for?

Answer: localization of genes on chromosome, detection of chromosomal anomalies (especially those too small to see on karyotype)

Flashcard 9: Explain how kayrotyping works.

Answer: Metaphase chromosomes are fixed, stained, and examined based on visible characteristics (size, shape, banding).

Flashcard 10: What is karyotyping used for?

Answer: detecting large chromosomal abnormalities or chromosomal imbalances (cannot detect microscopic changes)