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chromosomal abnormalities, gene mapping, linkage analysis, mutations, patterns of inheritance, structural abnormalities



  1. Nehring, Wendy M. PhD, RN
  2. Faux, Sandra A. PhD, RN


It is imperative that clinicians understand basic human genetic concepts. In this article, the patterns of inheritance for single gene disorders are described and include the traditional Mendelian, nontraditional, and multifactorial patterns. Next, chromosomal and structural abnormalities are described, followed by a description of the current measures by which genes are detected, including gene mapping and polymorphisms, and concluding with cytogenetic, molecular, and biochemical testing.