Reaching a CNV milestone

Nat Genet. 2014 Oct;46(10):1046-8. doi: 10.1038/ng.3106.


A new study compares the copy number variants (CNVs) in 29,085 children with developmental delay to those in 19,584 healthy controls, providing a valuable compilation of such data. The phenotypic variability and wide range of penetrance for these variants present societal challenges regarding how these findings might be incorporated into newborn screening, early intervention and, perhaps, carrier testing and prenatal diagnosis.

Publication types

  • Comment

MeSH terms

  • Autistic Disorder / genetics*
  • DNA Copy Number Variations*
  • Developmental Disabilities / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male