Skip to main content

Genetic Disorders

  • Chapter
Family Medicine

Abstract

Genetics is used in family medicine to evaluate the risk a patient may have for a genetic disorder and to counsel patients about possible risks associated with any future childbearing. Every pregnancy involves risk of an abnormal outcome.1 The general risks for pregnancy are listed in Table 16.1. The types of genetic disorders encountered by family physicians can be classified into the following five categories.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Harper PS. Practical genetic counselling. 4th ed. Oxford: Butterworth-Heinemann, 1993.

    Google Scholar 

  2. Committee on Obstetric Practice. ACOG committee opinion: Down syndrome screening. Int J Gynaecol Obstet 1994;47: 186–90.

    Google Scholar 

  3. Simpson JL, Golbus MS. Genetics in obstetrics and gynecology. 2nd ed. Philadelphia: Saunders, 1992.

    Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  5. Rosenfeld R. Turner’s syndrome: a guide for physicians. The Turner’s Syndrome Society, Minneapolis, Minn., 1992.

    Google Scholar 

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

    CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  8. Davis PB. Cystic fibrosis: new perceptions, new strategies. Hosp Pract (Off Ed) 1992;27:79–83, 87–8, 93–4.

    Google Scholar 

  9. Carroll JC. Maternal serum screening. Can Fam Physician 1994;40:1756–64.

    PubMed  CAS  Google Scholar 

  10. Committee on Technical Bulletins of the American College of Obstetricians and Gynecologists. Alpha-fetoprotein. Int J Gynaecol Obstet 1992;38:241–7.

    Google Scholar 

  11. Weitzel JN. Genetic counseling for familial cancer risk. Hosp Pract 1996;31(2):57–69.

    CAS  Google Scholar 

  12. McPherson RA, editor. Genetic testing. Clin Lab Med 1995; 15:779–1023.

    Google Scholar 

  13. Sandberg AA. Cancer cytogenetics for clinicians. CA 1994; 44:136–59.

    PubMed  CAS  Google Scholar 

  14. Weinberg RA. Oncogenes and tumor suppressor genes. CA 1994;44:160–70.

    Article  PubMed  CAS  Google Scholar 

  15. Geller G, Tambor ES, Chase GA, Hofman KJ, Faden RR, Holtzman NA. Incorporation of genetics in primary care practice: Will physicians do the counseling and will they be directive? Arch Fam Med 1993;2:1119–25.

    Article  PubMed  CAS  Google Scholar 

  16. Schatzkin A, Goldstein A, Freedman LS. What does it mean to be a cancer gene carrier? Problems in establishing causality from the molecular genetics of cancer. J Natl Cancer Inst 1995;87:1126–30.

    Article  PubMed  CAS  Google Scholar 

  17. Whittaker LA. The implications of the Human Genome Project for family practice. J Fam Pract 1992;35:294–301.

    PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1998 Springer Science+Business Media New York

About this chapter

Cite this chapter

Bachman, J.W. (1998). Genetic Disorders. In: Taylor, R.B., David, A.K., Johnson, T.A., Phillips, D.M., Scherger, J.E. (eds) Family Medicine. Springer, New York, NY. https://doi.org/10.1007/978-1-4757-2947-4_16

Download citation

  • DOI: https://doi.org/10.1007/978-1-4757-2947-4_16

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4757-2949-8

  • Online ISBN: 978-1-4757-2947-4

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics