Pedigree Analysis and Risk Assessment

  • Catherine Walsh Vockley


The personal and family medical pedigree has evolved from its earliest ancestors in the 15th century to its current form and has become an essential tool in many aspects of the clinical genetics evaluation. Originally used primarily to display relationship information, the pedigree was used for the first time to demonstrate inheritance of traits in the mid-19th century when Pliney Earl published on inheritance of color blindness and Francis Galton described inheritance of artistic ability and genius.1


Angelman Syndrome Pedigree Analysis Sperm Donor Hereditary Disorder Relationship Line 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Resta R. The crane’s foot: the rise of the pedigree in human genetics. J Genet Couns. 1993;2:235–260.CrossRefGoogle Scholar
  2. 2.
    Bennett R, Steinhaus K, Uhrich S, O’Sullivan C. The need for developing standardized family pedigree nomenclature. J Genet Couns. 1993;2:261–273.CrossRefGoogle Scholar
  3. 3.
    Bennett R, Steinhaus K, Uhrich S, et al. Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet. 1995;56:745–752.PubMedGoogle Scholar
  4. 4.
    Bennett R. The Language of the Pedigree: The Practical Guide to the Genetic Family History. New York: Wiley-Liss; 1999:1–12.CrossRefGoogle Scholar
  5. 5.
    Daly M, Farmer J, Harrop-Stein C, et al. Exploring family relationships in cancer risk counseling using the genogram. Cancer Epidemiol Biomarkers Prev 1999;8:393–398.PubMedGoogle Scholar
  6. 6.
    Botkin J. Protecting the privacy of family members in survey and pedigree research. JAMA. 2001;285:207–211.PubMedCrossRefGoogle Scholar
  7. 7.
    American Society of Human Genetics Policy Papers and Reports. Should Family Members About Whom You Collect Only Medical History Information for Your Research Be Considered “Human Subjects”? Amercian Society of Human Genetics, Bethesda, MD, 2000. Scholar
  8. 8.
    US Department of Health and Human Services. Medical Privacy— National Standards to Protect the Privacy of Personal Health Information. US Department of Health and Human Services; 2003.Google Scholar
  9. 9.
    ASHG statement. Professional disclosure of familial genetic information. The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure. Am J Hum Genet. 1998;63:898–900.Google Scholar
  10. 10.
    Vogel F, Motulsky A. Human Genetics: Problems and Approaches. Berlin: Springer-Verlag; 1997.Google Scholar
  11. 11.
    McKusick V. Online Mendelian Inheritance in Man, OMIM [database online]. Baltimore, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University; Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine, 1966–2005.Google Scholar
  12. 12.
    Tommerup N. Mendelian cytogenetics: chromosome rearrangements associated with Mendelian disorders. J Med Genet. 1993;30:713–727.PubMedCrossRefGoogle Scholar
  13. 13.
    Schmickel R. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr. 1986;109:231–241.PubMedCrossRefGoogle Scholar
  14. 14.
    Nussbaum R, McInnes R, Willard H. Thompson & Thompson Genetics in Medicine. Philadelphia: W. b. Saunders; 2001.Google Scholar
  15. 15.
    Vockley J, Rinaldo P, Bennett M, Matern D, Vladutiu G. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathway. Mol Genet Metab. 2000;71:10–18.PubMedCrossRefGoogle Scholar
  16. 16.
    Bennett R, Motulsky A, Bittles A, et al. Genetic counseling and screening of consanguineous couples and their offspring: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2002;11:97–120.CrossRefGoogle Scholar
  17. 17.
    Beaudet A, Scriver C, Sly W, Valle D. Genetics, biochemistry and molecular basis of variant human phenotypes. In: Beaudet A, Scriver C, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol. 1. New York: McGraw-Hill, 2001:14–42.Google Scholar
  18. 18.
    Young I. Genetic Counseling and the Laws of Probability. Introduction to Risk Calculation in Genetic Counseling. Oxford: Oxford University Press; 1999:1–14.Google Scholar

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Catherine Walsh Vockley
    • 1
  1. 1.Children’s Hospital of PittsburghPittsburghUSA

Personalised recommendations