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                                           Age of onset (years)
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Prevalence Of Genetic Disorders 1

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Prevalence Of Genetic Disorders 1

  1. 1. ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌦ ⌫ ⌦ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫⌦
  2. 2. ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌦ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫
  3. 3. ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫
  4. 4. ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ Single gene disorders Chromosome abnormalities - Autosomal dominant - Changes in number - Autosomal recessive - Changes in structure - X-linked dominant - Uniparental disomy - X-linked recessive - Mosaicism
  5. 5. ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌦ ⌦
  6. 6. ⌫ ⌫ ⌦ ⌫ ⌧ ⌧ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌧ ⌫ ⌫ ⌦ ⌫ ⌫ ⌧ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌦
  7. 7. ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫
  8. 8. ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦
  9. 9. ⌫ ⌫ ⌫ ⌫ ⌧ ⌧ ⌧ µ µ ☺
  10. 10. ⌫ ⌧ ☺ ⌧ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫
  11. 11. ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫⌦ ⌫ ⌫ ⌫
  12. 12. ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫
  13. 13. ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌧ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌧ ⌫ ⌫ ⌫ ⌫ ⌧ ⌫ ⌫
  14. 14. ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌧ ⌫ ⌫ ⌫ ⌧ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫
  15. 15. ⌫ ⌫ ⌫ ⌫ α α α β ⌫ ⌫ ⌫ β ☯ β ☯ ☯ ⌧ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫
  16. 16. ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ α α ☺ ⌧ β β β
  17. 17. ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌧ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫
  18. 18. ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ Deficient coagulation Incidence in general Chromosome invo factor population Fibrinogen 1:1 million 4 Prothrombin 1:2 million 11 Factor V 1:1 million 1 Factor VII 1:500,000 13 Factor VIII 1:10,000 X Factor IX 1:60,000 X Factor X 1:1 million 13 Factor XI 1:1 million 4 Factor XIII 1:1 million 6 ( subunit A ) 1 ( subunit B )
  19. 19. ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌧ ⌧ ⌧ ⌫ ⌧ ⌧ ⌧
  20. 20. ⌫ Age of onset (years) Café au lait patches Birth-12 > Skin-fold freckling >3 8 Lisch nodules >3 > Cutaneous neurofibromas >7 ( usually late teens ) > Plexiform neurofibromas:visible Birth 2 Deep-seated Birth> 4 Malignant peripheral nerve sheath 5-75 2 tumor Scoliosis Birth-18 Scoliosis requiring surgery Birth-18 5 Pseudoarthrosis of the tibia Birth-3 2 Renal artery stenosis Lifelong 2 Phaeochromocytoma >10 2 Cognitive impairment with IQ<70 Birth Learning problems Birth 3 Attention deficit hyperactivity Birth 3 disorder Epilepsy Lifelong 6 Optic pathway glioma Birth-7 ( rarely up to 30 ) Cerebral glioma Lifelong 2 Aqueduct stenosis Lifelong Sphenoidwing dysplasia Birth Macrocephaly Birth 4 Stature at 10th-25th percentile Birth 3

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