Genetic Techniques in the Evaluation of Short Stature

Christopher J. Romero, Lakshmi Mehta, Robert Rapaport

Research output: Contribution to journalReview articlepeer-review


Normal growth is a complex dynamic process dependent on the coordination of multiple factors including genetics, nutrition and hormones that are all working in balance. This chapter will review selected features of commonly utilized genetic techniques such as chromosomal analysis, microarray analysis, targeted gene screening and whole exome sequencing that are being used to identify genes influencing growth. As genetic technologies continue to improve and become more accessible many of these techniques will help to provide a better understanding of mechanisms underlying abnormal growth and will eventually lead to novel management approaches for abnormal growth.

Original languageEnglish (US)
Pages (from-to)345-358
Number of pages14
JournalEndocrinology and Metabolism Clinics of North America
Issue number2
StatePublished - Jun 1 2016
Externally publishedYes


  • Genome-wide analysis
  • Height
  • Microarray analysis
  • Short stature
  • Whole-exome sequencing

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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