Child development and structural variation in the human genome

Child Dev. 2013 Jan-Feb;84(1):34-48. doi: 10.1111/cdev.12051. Epub 2013 Jan 13.


Structural variation of the human genome sequence is the insertion, deletion, or rearrangement of stretches of DNA sequence sized from around 1,000 to millions of base pairs. Over the past few years, structural variation has been shown to be far more common in human genomes than previously thought. Very little is currently known about the effects of structural variation on normal child development, but such effects could be of considerable significance. This review provides an overview of the phenomenon of structural variation in the human genome sequence, describing the novel genomics technologies that are revolutionizing the way structural variation is studied and giving examples of genomic structural variations that affect child development.

Publication types

  • Review

MeSH terms

  • Child
  • DNA Copy Number Variations
  • DNA Replication / genetics
  • Developmental Disabilities / genetics*
  • Gene Duplication / genetics
  • Gene Rearrangement / genetics
  • Genome, Human / genetics
  • Genomic Structural Variation / genetics*
  • Humans
  • Recombination, Genetic / genetics
  • Sequence Analysis, DNA
  • Sequence Deletion / genetics
  • Sequence Inversion / genetics