1. Karyotypes

2. Karyotypes
A picture of someone’s chromosomes
Centromere

3. Has 46 chromosomes for humans
Normal Karyotypes
Has 46 chromosomes for humans
Arranged in 23 pairs

4. Female Sex is determined on the 23rd Pair.
Both chromosomes are “X” chromosomes X

5. *One chromosome is “X” and the other is a “Y” chromosome
Male
* Sex is determined on the 23rd pair.
*One chromosome is “X” and the other is a “Y” chromosome

6. Trisomy 21 – Down Syndrome
Extra Chromosome on 21
Total of 47 Chromosomes

7. Symptoms: Flat Face Small Broad Nose Upward Slanted Eyes
Moderate to Severe Retardation
Some Medical Problems (Heart Defects)
90% of cases come from the mother’s egg.

8. Down Syndrome Karyotype

9. Trisomy 13 – Patau Syndrome
Extra Chromosome on 13
Total of 47 Chromosomes

10. Symptoms: Cleft lip or palate
Close-set eyes -- eyes may actually fuse together into one
Decreased muscle tone
Extra fingers or toes
Mental retardation

11. Patau Syndrome Karyotype

12. Klinefelter’s Syndrome (XXY)
Extra Sex Chromosome “X”
Total of 47 Chromosomes

13. Symptoms: Tall Stature Sometimes Lack Facial Hair
More Breast Tissue than Normal
Small Testes
Sterile

14. Klinefelter’s Syndrome Karyotype

15. Turner’s Syndrome (X-)
Missing an X chromosome on 23rd Pair.

16. Symptoms: Infertile Lack Ovarian Development Short Stature
Short Webbed Neck
In 75-80% of cases, the father’s sperm is missing the X chromosome.

17. Turner’s Syndrome Karyotype

18. Androgen Insensitivity Syndrome (AIS)
Genetic make-up of an XY male
Develop as a Female
Resistant to Androgens
the hormones responsible for male sexual development
* EX: JAMIE LEE CURTIS

19. 2 Types: Complete AIS: 1 in 20,000 births
Prevents development of Penis and other male body parts.
Look like females, have no uterus and no menstruation.

20. Incomplete AIS: Both male and female characteristics
Has a vagina, but no uterus or cervix
Enlarged Clitoris
Testes in the abdomen or unusual places

21. XYY Syndrome Occurs on 23rd pair, extra “Y” Very Tall
Extra Acne during Adolescence
Sometimes develop Learning Disabilities

22. XYY Syndrome Karyotype

23. QUESTIONS???