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Karyotype Curiosities

Karyotype Curiosities. Visual Aids. Fertilization. MITOSIS. egg n=23 haploid. Sperm n=23 haploid. Zygote n=46 diploid. Stem Cells Diploid=2n. 2n. 2n. 2n. 2n. 2n. 2n. 2n. 2n. 2n. 2n. The fusion of a sperm and egg to form a zygote.

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Karyotype Curiosities

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  1. Karyotype Curiosities Visual Aids

  2. Fertilization MITOSIS egg n=23 haploid Sperm n=23 haploid Zygote n=46 diploid Stem Cells Diploid=2n 2n 2n 2n 2n 2n 2n 2n 2n 2n 2n 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. The new cells created are stem cells until they are differentiated (told what to become)

  3. What is a karyotype? • The actual chromosomal map of a cell • Is this cell haploid or diploid? • 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. FEMALE MALE What makes a male and female different?

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

  8. Patau Syndrome(Trisomy 13)

  9. Facial abnormalities found in an infant with Patau syndrome. Patau Syndrome(Trisomy 13)

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

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

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

  13. Edward’s Syndrome(Trisomy 18)

  14. “Clubbed” hands typical of Edward’s syndrome. This picture was taken with ultrasound and shows the clubbed hands in utero. Edward’s Syndrome(Trisomy 18)

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

  16. Down Syndrome(Trisomy 21)

  17. Mild to moderate mental disability Short stature Simian crease in hand Flat nasal bridge Down Syndrome(Trisomy 21)

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

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

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

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

  22. Male appearance Underdeveloped testes Breast enlarged Less body hair Usually sterile Klinefelter Syndrome(extra X chromosome in males) XXY

  23. Trisomy X (XXX)

  24. Trisomy X (XXX) No major physical differences Some may have delayed speech Taller until puberty Scoliosis in some cases

  25. Turner Syndrome (monosomy X)

  26. Turner Syndrome (monosomy X)

  27. Turner Syndrome (monosomy X)

  28. Cri du chat Syndrome(chromosome 5 deletion)

  29. Cri du chat Syndrome(chromosome 5 deletion) • Rounded, moonlike faces • Catlike Cries • Mental Retardation

  30. Cri du chat Syndrome(chromosome 5 deletion)

  31. Cri du chat Syndrome(chromosome 5 deletion)

  32. Abnormal outer ear (pinna) Cri du chat Syndrome(chromosome 5 deletion)

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