1. Karyotype Curiosities Visual Aids

2. Fertilization The fusion of a sperm and egg to form a zygote. The fusion of a sperm and egg to form a zygote. Once an egg is fertilized, the zygote will go through mitosis to create more cells. Once an egg is fertilized, the zygote will go through mitosis to create more cells. The new cells created are stem cells until they are differentiated (told what to become) The new cells created are stem cells until they are differentiated (told what to become) egg n=23 haploid Sperm n=23 haploid Zygote n=46 diploid 2n Stem Cells Diploid=2n MITOSIS

3. What is a karyotype? The actual chromosomal map of a cell The actual chromosomal map of a cell Is this cell haploid or diploid? Is this cell haploid or diploid? How do you know? How do you know?

4. Why are these chromosomes in X’s?

5. Is this a karyotype of a haploid or diploid cell? How do you know?

6. What makes a male and female different? What makes a male and female different? MALE FEMALE

7. Trisomy & Monosomy Caused by chromosomes not separating completely during meiosis Caused by chromosomes not separating completely during meiosis

8. Patau Syndrome (Trisomy 13)

9. Facial abnormalities found in an infant with Patau syndrome.

10. Patau Syndrome (Trisomy 13) Infant with Patau syndrome demonstrating facial birth defects. Brain, heart, & spinal cord defects Smaller eyes

11. Patau Syndrome (Trisomy 13) A rare case of Patau Syndrome survival

12. Patau Syndrome (Trisomy 13) Polydactyly and digit fusion in Patau patients

13. Edward’s Syndrome (Trisomy 18)

14. “Clubbed” hands typical of Edward’s syndrome. “Clubbed” hands typical of Edward’s syndrome. This picture was taken with ultrasound and shows the clubbed hands in utero. This picture was taken with ultrasound and shows the clubbed hands in utero.

15. Edward’s Syndrome (Trisomy 18) Edward’s syndrome patient confined to wheelchair because of bone abnormalities.

16. Down Syndrome (Trisomy 21)

17. Mild to moderate mental disability Mild to moderate mental disability Short stature Short stature Simian crease in hand Simian crease in hand Flat nasal bridge Flat nasal bridge

18. Down Syndrome (Trisomy 21) White spots on iris called Brushfield spots result from abnormal aggregation of connective tissue. White spots on iris called Brushfield spots result from abnormal aggregation of connective tissue.

19. Jacob’s Syndrome (extra Y chromosome) - XYY

20. Jacob’s Syndrome (extra Y chromosome) Taller than normal males Taller than normal males Speech problems Speech problems Weaker muscles Weaker muscles Delayed puberty Delayed puberty Aggression Aggression Normal appearance Normal appearance

21. Klinefelter Syndrome (extra X chromosome in males) XXY

22. Male appearance Male appearance Underdeveloped testes Underdeveloped testes Breast enlarged Breast enlarged Less body hair Less body hair Usually sterile Usually sterile

23. Trisomy X (XXX)

24. No major physical differences No major physical differences Some may have delayed speech Some may have delayed speech Taller until puberty Taller until puberty Scoliosis in some cases Scoliosis in some cases

25. Turner Syndrome (monosomy X)

28. Cri du chat Syndrome (chromosome 5 deletion)

29. Rounded, moonlike faces Rounded, moonlike faces Catlike Cries Catlike Cries Mental Retardation Mental Retardation

30. Cri du chat Syndrome (chromosome 5 deletion)

32. Abnormal outer ear (pinna)