2. (1)Karyotyping:
a. Used to look at chromosome pairs and identify chromosomal-disorders.
b. What do they look for?
i. Weird shaped / shortened chromosomes.
ii. Missing Chromosomes (the pair only has 1 instead of 2).
iii. Too Many Chromosomes (the pair has 3 instead of only 2).
c. What’s considered normal?
i. 23 pairs or 46 total.
ii. The 23rd pair should be the sex chromosomes…
1. Male Sex Chromosomes = 1 X and 1 Y chromosome
3. 2. Female Sex Chromosomes = 2 X chromosomes
(2)Chromosomal / Genetic Disorders:
a. Down Syndrome
i. Trisomy at Chromosome #21 = Has 3 Chromosomes at #21
ii. Physical Symptoms / Results:
1. Round, asian-like facial features
2. Shorter stature
3. Heart defects
4. Shorter lifespan
5. More prom to alzheimer’s and leukemia
b. Patau Syndrome
i. Trisomy at Chromsome #13 = Has 3 Chromosomes at #13
ii. Physical Symptoms / Results:
1. Eye, Brain & Circulatory System defects
2. Cleft Palate
3. Death common w/in months of birth
4. c. Edward’s Syndrome
i. Trisomy at Chromosome #18 = Has 3 Chromosomes at #18
ii. Physical Symptoms / Results:
1. Every organ / Almost every organ defected
2. Death within months of birth
d. Klinefelter Syndrome
i. Too many sex chromosomes
ii. XXY
iii. Physical Symptoms / Results:
1. Male sex organs present, but underdeveloped + sterile
2. Feminine body characteristics
3. Normal intelligence
e. Turner’s Syndrome
i. Too few sex chromosomes
ii. X
iii. Physical Symptoms / Results:
1. Female, but organs are immature sexually + sterile
2. Shorter stature
3. Normal intelligence
4. Many unfortunately die prior to birth
5. QUIZ
REVIEW QUESTIONS
1) What is a karyotype used for?
2) What do you look for in a karyotype?
3) What is wrong w/the chromosomes in Down Syndrome?
4) Describe the physical results of Down Syndrome.
5) What is wrong w/the chromosomes in Patau Syndrome?
6) Describe the physical results of Patau Syndrome.
7) What is wrong w/ the chromsomes in Edward’s Syndrome?
8) Describe the physical results of Edward’s Syndrome.
9) What is wrong w/the chromosomes in Klinefelter’s Syndrome?
10) Describe the physical results of Klinefelter’s Syndrome.
11) What is wrong w/the chromosomes in Turner’s Syndrome?
12) Describe the physical results of Turner’s Syndrome.
13) What would you expect to see in a normal karyotype?
6. QUIZ
REVIEW QUESTIONS
1) What is a karyotype used for?
2) What do you look for in a karyotype?
3) What is wrong w/the chromosomes in Down Syndrome?
4) Describe the physical results of Down Syndrome.
5) What is wrong w/the chromosomes in Patau Syndrome?
6) Describe the physical results of Patau Syndrome.
7) What is wrong w/ the chromsomes in Edward’s Syndrome?
8) Describe the physical results of Edward’s Syndrome.
9) What is wrong w/the chromosomes in Klinefelter’s Syndrome?
10) Describe the physical results of Klinefelter’s Syndrome.
11) What is wrong w/the chromosomes in Turner’s Syndrome?
12) Describe the physical results of Turner’s Syndrome.
13) What would you expect to see in a normal karyotype?
