NSG 530 Exam 1
Study online at https://quizlet.com/_ej1o0f
1. Interphase: cell feeds, metabolizes and grows while replicating DNA in prepara-
tion for mitosis
2. Prophase: first appearance of chromosomes (will be 92)
3. Metaphase: Centrioles pull chromosomes to opposite sides of cell (chromatid) -
46 each side
4. Anaphase: Centromeres split and sister chromatids are pulled apart
5. Telophase: New nuclear membrane formed around each group of 46 chromo-
somes *When it goes right, euploid cells are produced*
6. Nondisjunction: Error in meiosis in which homologous chromosomes fail to
separate.
7. Polyploidy: condition in which an organism has extra sets of chromosomes
8. Triploidy: when an organism has three copies of every chromsome instead of two
9. Tetrapoloidy: euploid has 92 chromosomes and fetus usually does not survive
10. Huntington's disease: 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
11. Cystic fibrosis: 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)
12. Turner syndrome: XO chromosomal disorder, monosomy of X-affects females
Short stature, webbed neck, undeveloped breasts but female genitalia, usually
sterile
13. Down syndrome: Chromosomal disorder, trisomy 21
Affects both sexes
Intellectual disability, poor muscle tone, low nasal bridge, low set ears, protruding
tongue, epicanthal fold
14. Fragile X syndrome: Chromosomal disorder (break in long arm of X)
Higher prevalence in males
Intellectual disability
15. Klinefelter syndrome: (XXY) chromosomal disorder 1:1000 male births
Male appearance, sparse body hair, mild intellectual disability
16. Atrophy: Decrease in cell size
"When cast is removed from left calf, it is smaller than the right calf"
1/4
Study online at https://quizlet.com/_ej1o0f
1. Interphase: cell feeds, metabolizes and grows while replicating DNA in prepara-
tion for mitosis
2. Prophase: first appearance of chromosomes (will be 92)
3. Metaphase: Centrioles pull chromosomes to opposite sides of cell (chromatid) -
46 each side
4. Anaphase: Centromeres split and sister chromatids are pulled apart
5. Telophase: New nuclear membrane formed around each group of 46 chromo-
somes *When it goes right, euploid cells are produced*
6. Nondisjunction: Error in meiosis in which homologous chromosomes fail to
separate.
7. Polyploidy: condition in which an organism has extra sets of chromosomes
8. Triploidy: when an organism has three copies of every chromsome instead of two
9. Tetrapoloidy: euploid has 92 chromosomes and fetus usually does not survive
10. Huntington's disease: 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
11. Cystic fibrosis: 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)
12. Turner syndrome: XO chromosomal disorder, monosomy of X-affects females
Short stature, webbed neck, undeveloped breasts but female genitalia, usually
sterile
13. Down syndrome: Chromosomal disorder, trisomy 21
Affects both sexes
Intellectual disability, poor muscle tone, low nasal bridge, low set ears, protruding
tongue, epicanthal fold
14. Fragile X syndrome: Chromosomal disorder (break in long arm of X)
Higher prevalence in males
Intellectual disability
15. Klinefelter syndrome: (XXY) chromosomal disorder 1:1000 male births
Male appearance, sparse body hair, mild intellectual disability
16. Atrophy: Decrease in cell size
"When cast is removed from left calf, it is smaller than the right calf"
1/4
