NSG 530 2027 EXAM 1 COMPREHENSIVE STUDY GUIDE FULLY
SOLVED EDITION WITH TESTED QUESTIONS AND CORRECT
ANSWERS
Question 1.
Interphase .
Answer: cell feeds, metabolizes and grows while replicating DNA in
preparation for mitosis
Question 2.
Prophase .
Answer: first appearance of chromosomes (will be 92)
Question 3.
Metaphase .
Answer: Centrioles pull chromosomes to opposite sides of cell (chromatid) - 46
each side
Question 4.
Anaphase .
Answer: Centromeres split and sister chromatids are pulled apart
Question 5.
Telophase .
Answer: New nuclear membrane formed around each group of 46
chromosomes *When it goes right, euploid cells are produced*
Question 6.
Nondisjunction .
Answer: Error in meiosis in which homologous chromosomes fail to separate.
Question 7.
Polyploidy .
Answer: condition in which an organism has extra sets of chromosomes
‣ Triploidy . Answer: when an organism has three copies of every chromsome
instead of two
, Question 8.
Tetrapoloidy .
Answer: euploid has 92 chromosomes and fetus usually does not survive
Question 9.
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
Question 10.
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)
Question 11.
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
Question 12.
Fragile X syndrome .
Answer: Chromosomal disorder (break in long arm of X)
Higher prevalence in males
Intellectual disability
Question 13.
Klinefelter syndrome .
Answer: (XXY) chromosomal disorder 1:1000 male births
Male appearance, sparse body hair, mild intellectual disability
SOLVED EDITION WITH TESTED QUESTIONS AND CORRECT
ANSWERS
Question 1.
Interphase .
Answer: cell feeds, metabolizes and grows while replicating DNA in
preparation for mitosis
Question 2.
Prophase .
Answer: first appearance of chromosomes (will be 92)
Question 3.
Metaphase .
Answer: Centrioles pull chromosomes to opposite sides of cell (chromatid) - 46
each side
Question 4.
Anaphase .
Answer: Centromeres split and sister chromatids are pulled apart
Question 5.
Telophase .
Answer: New nuclear membrane formed around each group of 46
chromosomes *When it goes right, euploid cells are produced*
Question 6.
Nondisjunction .
Answer: Error in meiosis in which homologous chromosomes fail to separate.
Question 7.
Polyploidy .
Answer: condition in which an organism has extra sets of chromosomes
‣ Triploidy . Answer: when an organism has three copies of every chromsome
instead of two
, Question 8.
Tetrapoloidy .
Answer: euploid has 92 chromosomes and fetus usually does not survive
Question 9.
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
Question 10.
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)
Question 11.
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
Question 12.
Fragile X syndrome .
Answer: Chromosomal disorder (break in long arm of X)
Higher prevalence in males
Intellectual disability
Question 13.
Klinefelter syndrome .
Answer: (XXY) chromosomal disorder 1:1000 male births
Male appearance, sparse body hair, mild intellectual disability
