Genetic Disease

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Contents

More Specific Terms

Introduction

Genetics

  • multiple generations of affected individuals
  • both male & female affected
  • half of male & female children of affected mothers will be affected
  • no affected male children of affected fathers
  • all daughters of affected fathers will be affected
  • some X-linked dominant conditions are fatal to males, so only females will survive
  • other factors
  • multiple affected individuals in multiple generations
  • occurrence of disease at early age
  • close degree of relatedness of affected relative
  • close biologic relationship between parents
  • presence of associated conditions
  • disease in the absence of other known risk factors
  • unusual presentation

Laboratory

More General Terms

Additional Terms

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17 American College of Physicians, Philadelphia 2009, 2012, 2015
  2. Berg AO et al National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. Ann Intern Med. 2009 Dec 15;151(12):872-7. PMID: [1]

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