Genetic Disorders

  • John W. Bachman

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.

Keywords

Cystic Fibrosis Down Syndrome Cystic Fibrosis Transmembrane Conductance Regulator Neural Tube Defect Turner Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Harper PS. Practical genetic counselling. 4th ed. Oxford: Butterworth-Heinemann, 1993.Google Scholar
  2. 2.
    Committee on Obstetric Practice. ACOG committee opinion: Down syndrome screening. Int J Gynaecol Obstet 1994;47: 186–90.Google Scholar
  3. 3.
    Simpson JL, Golbus MS. Genetics in obstetrics and gynecology. 2nd ed. Philadelphia: Saunders, 1992.Google Scholar
  4. 4.
    Simpson JL. Screening for fetal and genetic abnormalities. Baillieres Clin Obstet Gynaecol 1991;5:675–96.PubMedCrossRefGoogle Scholar
  5. 5.
    Rosenfeld R. Turner’s syndrome: a guide for physicians. The Turner’s Syndrome Society, Minneapolis, Minn., 1992.Google Scholar
  6. 6.
    Jolly W, Froom J, Rosen MG. The genogram. J Fam Pract 1980;10:251–5.Google Scholar
  7. 7.
    Buist NR, Tuerck JM. The practitioner’s role in newborn screening. Pediatr Clin North Am 1992;39:199–211.PubMedGoogle Scholar
  8. 8.
    Davis PB. Cystic fibrosis: new perceptions, new strategies. Hosp Pract (Off Ed) 1992;27:79–83, 87–8, 93–4.Google Scholar
  9. 9.
    Carroll JC. Maternal serum screening. Can Fam Physician 1994;40:1756–64.PubMedGoogle Scholar
  10. 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. 11.
    Weitzel JN. Genetic counseling for familial cancer risk. Hosp Pract 1996;31(2):57–69.Google Scholar
  12. 12.
    McPherson RA, editor. Genetic testing. Clin Lab Med 1995; 15:779–1023.Google Scholar
  13. 13.
    Sandberg AA. Cancer cytogenetics for clinicians. CA 1994; 44:136–59.PubMedGoogle Scholar
  14. 14.
    Weinberg RA. Oncogenes and tumor suppressor genes. CA 1994;44:160–70.PubMedCrossRefGoogle Scholar
  15. 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.PubMedCrossRefGoogle Scholar
  16. 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.PubMedCrossRefGoogle Scholar
  17. 17.
    Whittaker LA. The implications of the Human Genome Project for family practice. J Fam Pract 1992;35:294–301.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1998

Authors and Affiliations

  • John W. Bachman

There are no affiliations available

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