1. Karyotype

2. Karyotype Picture of chromosomes from Prophase
Purpose: analyzing of chromosomes for abnormalities
Answer first question on right hand side.

3. Normal Female
Normal Male

4. Terms to Know Autosomes – chromosomes 1-22
Sex chromosome – chromosome 23
Monosomy - missing a chromosome (2n-1)
Trisomy - one extra chromosome (2n+1)
Nondisjunction - when chromosomes
fail to separate properly
Answer questions on right hand side.

5. Let’s Review…. How many chromosomes come from your Father? 23
How many chromosomes come from your Mother?
What are chromosome pairs 1-22 called?
What is chromosome pair 23 called? 23 23
Autosomes
Sex chromosome

6. Turner’s syndrome Missing a X chromosome on 23rd chromosome
Causes underdeveloped ovaries, short stature, webbed, and only found in women.
Bull neck and broad chest. Individuals are sterile and lack expected secondary sexual characteristics.
Mentally handicapped typically not evident.

7. Kleinfelter’s syndrome (or Klinefleter’s)
Caused by nondisjunction of the X chromosome on 23rd chromosome (XXY, XXYY)
Males with some development of breast tissue
Individuals have little body hair, typically tall, and have small testes.
Infertility results from
absent sperm.
Mentally handicapped may
or may not be present.

8. Down’s Syndrome Caused by non-disjunction of the 21st chromosome.
The individual has a trisomy 21.

9. The very tragic disease… hairy ears
Y-linked trait, which is extremely rare.
Symptoms… hairy ears
Only 1 cure known….

10. Flip Paper Over Karyotype Practice: circle any abnormalities
Trisomy 21 = Down’s Syndrome #2 #1
XO = Turner’s Syndrome

11. Flip Paper Over Karyotype Practice: circle any abnormalities
Trisomy 18 = Edward’s Syndrome #4 #3
XXY = Kleinfelter’s Syndrome

12. Flip Paper Over Karyotype Practice: circle any abnormalities
Trisomy 13 = Patau Syndrome #5

13. Pedigree

14. Pedigree
Diagram that shows how a trait is passed from generation to generation
Key: Female (normal) Female (has the trait)
Male (normal) Male (has the trait)
Married Married
Siblings Carrier
(husband and wife)
(brothers and sister)

15. How to read pedigrees? How many generations are shown?
How many affected people are there?
How many affected people are female?
How many affected people are male? 3 7 4 3

16. Sex-linked recessive pedigree
All carriers are female. Most affected are male.
Answer last question on right hand side.