1. Karyotypes

2. 1. What is a karyotype? a. Picture of the 23 pairs of chromosomes

3. 2. How are the chromosomes arranged? a. Size b. Banding c. Position of centromere

4. 3. Types of chromosomes a. Autonomies: a. 1 st 22 pairs b. Non sex chromosomes b. Sex chromosomes a. 23 rd pair b. XX – female c. XY - male

5. 4. Reasons for Karyotypes a. Detection of chromosomal disorders a. Performed by amniocentesis b. Including: a. Down’s syndrome a. Trisomy 21 b. Klinefelter’s syndrome a. Trisomy 23 c. Turner’s syndrome a. Monosomy 23

6. Normal male

7. Down’s Syndrome

8. Trisomy 21 Mental retardation Stunted growth Small chin Weaker immune system Eyelid crease Smaller palate

9. Turner’s Syndrome

10. Turner’s syndrome Occurs in females Only inherit one x chromosome Sterile = unable to reproduce Broad chest

11. Klinefelter’s syndrome Occurs in males Extra x chromosomes (XXY or XXXY) Infertile Low testosterone Increased breast tissue

12. Name that disorder

13. Patau Syndrome Trisomy 13 Cleft palate Mental retardation Polydactyl Seizures Skeletal abnormalities Decreased muscle tone