Genetic disorders — Flashcards

Flashcard 1: What chromosomal abnormality is associated with Patau syndrome?_____

Answer: Trisomy 13

Flashcard 2: Further expansion of CAG repeats (Huntington disease) occurs during _____ in males, which leads to anticipation in future generations

Answer: spermatogenesis

Flashcard 3: Hereditary spherocytosis is characterized by a(n) _____ RDW

Answer: increased

Flashcard 4: What is the mode of inheritance of phenylketonuria (PKU)? _____

Answer: Autosomal recessive (incidence ~ 1:10,000)

Flashcard 5: McCune-Albright syndrome is lethal if the mutation occurs before fertilization (affecting all cells), but survivable in patients with _____

Answer: 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.