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Genetic disorders

Genetic disorders. Gene/Chromosome Maps. Formation of sperm & egg. Three Types Single gene Cystic fibrosis PKU Chromosomal Down Syndrome Mult -factors Alzheimers Disease. Down Syndrome Trisomy 21. Characteristics. Almond shaped eyes with upward slant Short stature

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Genetic disorders

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  1. Genetic disorders

  2. Gene/Chromosome Maps

  3. Formation of sperm & egg

  4. Three Types • Single gene • Cystic fibrosis • PKU • Chromosomal • Down Syndrome • Mult-factors • Alzheimers Disease

  5. Down Syndrome Trisomy 21

  6. Characteristics • Almond shaped eyes with upward slant • Short stature • Intellectual disability • Low muscle tone • Heart defects

  7. Normal Fertilization

  8. Trisomy 21

  9. Trisomy 21 - Mosaic

  10. Trisomy 21

  11. Trisomy 21

  12. Cri du chat Cause: Dislocation of CH 5 or missing part

  13. Cri du chat

  14. Cri du chat • Characteristics • 1 in 20k – 50k • Intellectual disability • High-pitched cry • Microcephaly • Low birth weight • Hypotonia • Wide set eyes & small jaw

  15. Cri du chat

  16. Williams Syndrome Cause: Deletion of 26 genes on CH 7 Incidence: 1 in 10,000

  17. Williams Syndrome Cheerful demeanor ID Heart defects Small upturned nose Wide mouth & full lips Small chin Feeding problems

  18. Williams Syndrome

  19. Klinefelter Syndrome Cause: XXY Incidence: 1 in 500-1k newborn males

  20. Klinefelter Syndrome Sparse body hair Enlarged breasts Wide hips Small genitalia Language and learning issues

  21. Klinefelter Syndrome Sparse body hair Enlarged breasts Wide hips Small genitalia Language and learning issues

  22. Klinefelter Syndrome

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