NSG 530 EXAM 1 SAMPLE QUESTIONS
AND ANSWERS
Huntington's disease - ANSWER Single gene disorder (trinucleotide repeat mutation)
Autosomal dominant (50% chance of passing it on)
Progressive neurologic disease with late onset (40s)
Prevention- genetic testing for pregnancy planning
Cystic fibrosis - ANSWER Single gene disorder (CFTR gene mutation)
Autosomal recessive
Most common in white children
Defective transport of chloride ions cause salt imbalance- thickened secretions,
digestive issues, malnutrition. Males and females
Must inherit two copies of gene (1 from each parent)
Turner syndrome - ANSWER XO chromosomal disorder, monosomy of X-affects
females
Short stature, webbed neck, undeveloped breasts but female genitalia, usually sterile
Down syndrome - ANSWER Chromosomal disorder, trisomy 21
Affects both sexes
Intellectual disability, poor muscle tone, low nasal bridge, low set ears, protruding
tongue, epicanthal fold
Fragile X syndrome - ANSWER Chromosomal disorder (break in long arm of X)
Higher prevalence in males
Intellectual disability
Klinefelter syndrome - ANSWER (XXY) chromosomal disorder 1:1000 male births
Male appearance, sparse body hair, mild intellectual disability
Atrophy - ANSWER Decrease in cell size
"When cast is removed from left calf, it is smaller than the right calf"
Hypertrophy - ANSWER Increase in cell size
"Captain of roller derby team has greater thigh diameter at the end of the season than at
the beginning of the season"
Hyperplasia - ANSWER Increase in cell number
"Lining of uterus thickens after ovulation because of increased amounts of estrogen"
"Liver regenerates after surgical removal of damaged portion"
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