Clinical Correlation

Congenital Chromosomal and Genetic Abnormalities
  • Gregory Cooper
  • Gerald Eichhorn

Advances in genetics, dating back to the careful observations of Gregor Mendel, have shed much light on the etiology of inherited diseases. However, with this progress has come a realization that many of these conditions do not follow simple patterns of traditional Mendelian inheritance, and therefore a continual reshaping of our understanding of genetic disorders has taken place. Genetic disorders can be grouped into those linked to a single gene (monogenic) or multiple genes (oligogenic and polygenic) and to those related to larger chromosomal abnormalities. Genetic disorders can be further complicated by phenotypic variability despite an identical genotype. For example, multiple family members may carry an identical gene mutation but demonstrate varying clinical phenotypes. This suggests a role for additional modifier genes or other factors that might affect the clinical phenotype. Anticipation is another phenomenon sometimes seen in genetic diseases, such as Huntington’s disease....


Down Syndrome Muscular Dystrophy Duchenne Muscular Dystrophy Pervasive Developmental Disorder Rett Syndrome 
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Selected Readings

  1. Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006;16(3):276–81.PubMedCrossRefGoogle Scholar
  2. Slavotinek A, Biesecker LG. Genetic modifiers in human development and malformation syndromes, including chaperone proteins. Hum Mol Genet. 2003;12(Spec No 1):R45–50.PubMedCrossRefGoogle Scholar

Copyright information

© Humana Press, Totowa, NJ 2008

Authors and Affiliations

  • Gregory Cooper
    • 1
  • Gerald Eichhorn
    • 2
  1. 1.Sanders-Brown Center on AgingThe University of Kentucky, The Lexington ClinicLexingtonUSA
  2. 2.The Lexington ClinicLexingtonUSA

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