Examl 1:l BIOl 322/l BIO322l (Latestl 2025/l
2026l Update)l Appliedl Pathophysiologyl Review|l Questionsl &l Answers|l Gradel A|l 100%l Correctl (Verifiedl Solutions)-l GCU
Q:l Whatl isl thel causel ofl achondroplasia?l (autosomall dominant)
Answer:
Genel mutationl ofl chromosomel 4
Q:l Whatl arel thel signsl andl symptomsl ofl achondroplasia?
Answer:
Shortl extremities,l shortl fingersl &l toes,l tridentl hands,l largel headl w/l prominentl foreheadl frontall bossing,l varus/valgusl deformities
Q:l Whatl typel ofl testl canl bel donel tol determinel ifl someonel hasl achondroplasia?
Answer:
Geneticl testing
Q:l Whatl isl thel agel rangel forl thel onsetl ofl polycysticl kidneyl disease
Answer:
17-24l y/o
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Q:l Signsl &l symptomsl ofl polycysticl kidneyl disease
Answer:
Highl BP,l hematuria,l abdominall mass/backl mass,l kidneyl infections
Q:l Whatl testl canl bel performedl tol determinel ifl someonel hasl polycysticl kidneyl disease?
Answer:
Imaging-->l CTl orl ultrasound
Q:l Whatl isl thel agel ofl onsetl forl Huntington'sl disease?
Answer:
25-45l y/o
Q:l Whatl isl thel causel ofl Huntington'sl disease?
Answer:
Chromosomel 4l abnormalityl -->CAGl repeats,l indicatingl anl HDl risk
Q:l Signsl &l symptomsl ofl Huntington'sl disease
Answer:
Lossl ofl inhibitoryl ganglia,l dementia,l Choreal (spasmodic,l irregular,l involuntaryl movements) 2 / 3
Q:l whatl testl canl bel performedl tol determinel ifl someonel hasl Huntington'sl disease?
Answer:
CT/MRI-->l showsl basall ganglial arel destroyed
Q:l Whatl isl thel causel ofl cysticl fibrosis?l (autosomall recessive)
Answer:
Chromosomel 7l abnormality-->l Properl chloridel channelsl arel notl made,l causingl mucusl tol bel tool thick
Q:l Whatl isl thel medianl agel ofl diagnosisl forl cysticl fibrosis?
Answer:
6l months
Q:l Whatl isl thel medianl agel ofl survivall forl someonel withl cysticl fibrosis?
Answer:
42l y/o
Q:l Signsl &l symptomsl ofl cysticl fibrosis
Answer:
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