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Genetic Disorders

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Family Medicine

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Abstract

In family medicine, knowledge of genetics is useful in evaluating the risk a patient may have for a genetic disorder and to counsel patients about possible risks associated with any future childbearing. Today’s family physician assumes many roles in managing genetic issues (Table 16.1). The explosion in science centering on genetics requires all primary care physicians to be aware of the pragmatic advances in this field.

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References

  1. Layman LC. Essential genetics for the obstetrician/gynecologist. Obstet Gynecol Clin North Am 2000; 27: 555–66.

    Article  PubMed  CAS  Google Scholar 

  2. Richards G. Growth charts for children with Down syndrome. Available at www.growthcharts.com/index.htm.

    Google Scholar 

  3. Cunniff C, Frias JL, Kaye C, et al. Health supervision for children with Down syndrome. Pediatrics 2001; 107: 442–9.

    Article  Google Scholar 

  4. Saenger P. Turner’s syndrome. N Engl J Med 1996; 335: 1749–54.

    Article  PubMed  CAS  Google Scholar 

  5. Jolly W, Froom J, Rosen MG. The genogram. J Fam Pract 1980; 10: 251–5.

    CAS  Google Scholar 

  6. Buist NR, Tuerck JM. The practitioner’s role in newborn screening. Pediatr Clin North Am 1992; 39: 199–211.

    PubMed  CAS  Google Scholar 

  7. Pass KA, Lane PA, Fernhoff PM, et al. US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN). J Pediatr 2000; 137 (suppl): S1–46.

    Article  PubMed  CAS  Google Scholar 

  8. Robinson P. Cystic fibrosis. Thorax 2001; 56: 237–41.

    Article  PubMed  CAS  Google Scholar 

  9. Welsh MJ, Smith AE. Cystic fibrosis. Sci Am 1995; 273: 52–9.

    Article  PubMed  CAS  Google Scholar 

  10. Genetic testing for cystic fibrosis. NIH Consensus Statement 1997; 15: 1–37.

    Google Scholar 

  11. Congenital disorders. Screening for neural tube defects-including folic acid/folate prophylaxis. In: Guide to clinical preventive services, 2nd ed. 2001. Available at www.cpmcnet.columbia.edultexts.

    Google Scholar 

  12. Weitzel JN. Genetic counseling for familial cancer risk. Hosp Pract 1996; 31: 57–69.

    CAS  Google Scholar 

  13. Cole TR, Sleightholme HV. ABC of colorectal cancer. The role of clinical genetics in management. Br Med J 2000; 321: 943–6.

    Article  CAS  Google Scholar 

  14. Holtzman NA, Marteau TM. Will genetics revolutionize medicine? N Engl J Med 2000; 343: 141–4.

    Article  PubMed  CAS  Google Scholar 

  15. McEntyre J, Lipman D. PubMed: bridging the information gap. Can Med Assoc J 2001; 164: 1317–9.

    CAS  Google Scholar 

  16. Simpson JL. Screening for fetal and genetic abnormalities. Baillieres Clin Obstet Gynaecol 1991; 5: 675–96.

    Article  PubMed  CAS  Google Scholar 

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Authors
  1. John W. Bachman
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Editor information

Editors and Affiliations

  1. Department of Family Medicine, Oregon Health & Science University School of Medicine, 97201-3098, Portland, Oregon, USA

    Robert B. Taylor M.D. (Professor of Family Medicine) & Scott A. Fields M.D. (Professor and Vice Chairman) (Professor of Family Medicine) &  (Professor and Vice Chairman)

  2. Department of Family and Community Medicine, Medical College of Wisconsin, 53226-0509, Milwaukee, Wisconsin, USA

    Alan K. David M.D. (Professor and Chairman) (Professor and Chairman)

  3. Department of Family Medicine, University of Mississippi School of Medicine, 39216-4500, Jackson, Mississippi, USA

    D. Melessa Phillips M.D. (Professor and Chairman) (Professor and Chairman)

  4. College of Medicine, Florida State University College of Medicine, 32306-4300, Tallahassee, Florida, USA

    Joseph E. Scherger M.D., M.P.H. (Dean) (Dean)

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© 2003 Springer Science+Business Media New York

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Bachman, J.W. (2003). Genetic Disorders. In: Taylor, R.B., David, A.K., Fields, S.A., Phillips, D.M., Scherger, J.E. (eds) Family Medicine. Springer, New York, NY. https://doi.org/10.1007/978-0-387-21744-4_16

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  • DOI: https://doi.org/10.1007/978-0-387-21744-4_16

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4757-5209-0

  • Online ISBN: 978-0-387-21744-4

  • eBook Packages: Springer Book Archive

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