Chap 13

Question 1

Cytogenetics

Answer 1

Classical area of genetics that links chromosome variations to specific traits, including illness

Question 2

Heterochromatin

Answer 2

• Short arm
• Dark staining
• Repetitive DNA

Question 3

Euchromatiin

Answer 3

• Long arm
• Lighter staining
• Protein-coding genes

Question 4

Telomeres

Answer 4

• Chromosome tips
• Short after cell division
  -> Apoptosis

Question 5

Karyotype

Answer 5

• Chromosome chart
• Performed during mitotic metaphase.

Question 6

Telocentric

Answer 6

Centromere at the tip

Question 7

Acrocentric

Answer 7

Centromere close to center

Question 8

Submetacentric

Answer 8

Centromere off-center

Question 9

Metacentric

Answer 9

Centromere at the center

Question 10

How to detect Chromosome in blood

Answer 10

• Any cell that has a nucleus
• Def not red blood cell

Question 11

Amniocentesis

Answer 11

• Amniotic fluid from uterus.

Question 12

Chrorionic Villus Sampling

Answer 12

• 10-12th week of pregnancy
• Tissue sample from placenta
• Big risk abortion
• Does not detect metabolic problems.
• Faster result than Amnio

Question 13

Cell-Free Fetal DNA testing

Answer 13

• 10 weeks or later of pregnancy
• Non-invasive
• Blood sample
• 20% of mother’s blood (DNA)

Question 14

Chromosomal Shorthand

Answer 14

Describe structure, number or any abnormalities of chromosome in karyotype.

Question 15

Euploidy

Answer 15

Complete set of chromosome or extra
- Types:
-Haploidy (n)
-Diploidy (2n)
-Triploidy (3n)
-Polyploidy

Question 16

Polyploidy

Answer 16

Extra chromosome sets

Question 17

Aneuploidy

Answer 17

Add or loss of 1 chromosome number
Not the whole set

Question 18

Nondisjunction

Answer 18

• Create gamete with extra chromosome and another with loss chromosome.
• During Meiosis 1 and 2

Question 19

Trisomy 21

Answer 19

• Down syndrome
• Facial and physical problem
• 80% survival rate

Question 20

Trisomy 18

Answer 20

• Edwards syndrome
• Nondisjunction in meiosis 2
• Do not survive
  -Mental and
  physical disabilities

Question 21

Trisomy 13

Answer 21

• Patau syndrome
• Rare
• 6 months
• Intellectual disability and physical disability

Question 22

Sex chromosome Aneuploid

Answer 22

• More common than autosomal
• At least 1 copy of X for survival

Question 23

XO, 45

Answer 23

-Turner Syndrome
- Female
- Short
- Infertility
- Webbing neck

Question 24

XXY, 47

Answer 24

• Klinefelter Syndrome
• Male
• Infertility
• Long limbs, large hand and feet

Question 25

XYY, 47

Answer 25

• Male
• Great height, acne
• Speech and reading disabilities

Question 26

Duplications in Chromosome 15

Answer 26

-Seizures
-Developmental delay
-Intellectual disability
- Small size

Question 27

Translocation

Answer 27

• Reciprocal
• Robertsonian (common)