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Pedigrees and FHx (Case study - story of family with ? Gitelman syndrome…

- - - - intro to symbols
      - link to Bennett paper
      - link to you tube vid https://www.dnalc.org/view/15990-Making-a-pedigree.html
      - Eg - draw FHx of case study family (?video)
      - activity - draw pedigree from written info. Check their answer
      - Questions to ask (voice over)
      - FACT sheet - guide to symbols, Qs to ask
    - - identify conditions/traits of concern and potentially genetic - often beyond original referral (link back to first case study - video - HCM/Noonantext
      - determine mode of inheritancetext
        
        autosomal recessive
        
        consanguinity
        
        X-linked
        
        autosomal dominant
        
        variable penetrance
        
        variable expressivity
        
        FACT sheet - tips for determining mode of inheritance
        
        Activity - quiz - determine mode of inheritance from 3 pedigrees
      - aid Dxtext
        
        inform treatment
        
        inform advice/prognosis
      - textrisk estimation
        
        autosomal recessive case study
        
        effect of consanguinity - case study
        
        activity - 2 case studies
        
        autosomal dominant
        
        Eg. complete penetrance (eg. MND?)
        
        Eg. variable penetrance - HCM
        
        Eg. variable expressivity - ??
        
        sex linked
        
        Eg. haemophilia
        
        Eg. fragile X
        
        Activity - 2 case studies
        
        FACT sheet - tips for risk estimation
        
        QUIZ - pedigree construction, risk estimation (formative)
    - - Intro - review why important in GC
      - Discuss 2 case studies and how pedigree helped - (could use 2 from Adrienne/Sam intro tute 2016)
      - Demo - how to take a FHx
      - Pedigree construction from written info - discussion of info still needed. Can illustrate probs associated with second partners, adoption, non-paternity etc.
      - Role play activities
      - Risk estimation activities
      - Assessment activity - pedigree construction and risk estimation (done in Tute, = 500 words)