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Developmental Disabilities

  • Nancy J. Carpenter
  • Kristin May
  • Benjamin Roa
  • Jack Tarleton
Chapter
  • 1.7k Downloads

Abstract

Although the classic childhood phenotypes of many developmental disorders have been established for some time, only in the past decade have the genetic etiologies of some of these disorders been identified. Investigations of the molecular basis of these conditions have resulted in the identification of new genes, leading to insights into the function of new proteins and biochemical pathways. In addition, genetic mechanisms previously unknown in humans, such as genomic imprinting, uniparental disomy, expansion of trinucleotide repeats, and facilitation of deletions and duplications by low-copy repeats, were recognized as the causes of some of these conditions.

Keywords

Williams Syndrome Rett Syndrome Angelman Syndrome Full Mutation Uniparental Disomy 
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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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Nancy J. Carpenter
    • 1
  • Kristin May
    • 2
  • Benjamin Roa
    • 3
  • Jack Tarleton
    • 4
  1. 1.Center for Genetic TestingSaint Francis Health SystemTulsaUSA
  2. 2.Genetic Diagnostic LaboratoryTC Thompson Children’s HospitalChattanoogaUSA
  3. 3.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  4. 4.Fullerton Genetics Center LaboratoryMission HospitalsAshevilleUSA

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