Genetics

XR Inheritance

"FRAGILE DUCHENNE Goes to GH & BA-L-WA-DI"

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Defective DNA repair syndromes

"Big  FAX"

  • Bloom syndrome
  • Fanconi anemiaa
  • Ataxia telangiectasiax
  • Xeroderma pigmentosum
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X linked recessive disorders: Examples

"Less HCG is Detected Clinically in A Fragile Woman"

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Metabolic disorders that are NOT autosomal recessive

"Her Left Eye Has Five Pimples"

  • Her's Disease
  • Lesch Nyhan Syndrome
  • Ocular albinism (Eye)
  • Hunter's Syndrome
  • Fabry's Disease
  • Porphyria (Acute Intermittent)

 

 

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