Display options
Cite
Rosenfeld JA, Coppinger J, Bejjani BA, et al. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord. 2010;2(1):26-38doi: 10.1007/s11689-009-9037-4.
Rosenfeld, J. A., Coppinger, J., Bejjani, B. A., Girirajan, S., Eichler, E. E., Shaffer, L. G., & Ballif, B. C. (2010). Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. Journal of neurodevelopmental disorders, 2(1), 26-38. https://doi.org/10.1007/s11689-009-9037-4
Rosenfeld, Jill A, et al. "Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications." Journal of neurodevelopmental disorders vol. 2,1 (2010): 26-38. doi: https://doi.org/10.1007/s11689-009-9037-4
Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, Ballif BC. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord. 2010 Mar;2(1):26-38. doi: 10.1007/s11689-009-9037-4. PMID: 21731881; PMCID: PMC3125720.
Copy Download .nbib Format: NLM
Share it on

J Neurodev Disord. 2010 Mar;2(1):26-38. doi: 10.1007/s11689-009-9037-4.

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.

Journal of neurodevelopmental disorders

Jill A Rosenfeld, Justine Coppinger, Bassem A Bejjani, Santhosh Girirajan, Evan E Eichler, Lisa G Shaffer, Blake C Ballif

Affiliations

  1. Signature Genomic Laboratories, 2820 N. Astor St., Spokane, WA 99207, USA.

PMID: 21731881 PMCID: PMC3125720 DOI: 10.1007/s11689-009-9037-4

Abstract

Microdeletions and microduplications encompassing a ~593-kb region of 16p11.2 have been implicated as one of the most common genetic causes of susceptibility to autism/autism spectrum disorder (ASD). We report 45 microdeletions and 32 microduplications of 16p11.2, representing 0.78% of 9,773 individuals referred to our laboratory for microarray-based comparative genomic hybridization (aCGH) testing for neurodevelopmental and congenital anomalies. The microdeletion was de novo in 17 individuals and maternally inherited in five individuals for whom parental testing was available. Detailed histories of 18 individuals with 16p11.2 microdeletions were reviewed; all had developmental delays with below-average intelligence, and a majority had speech or language problems or delays and various behavioral problems. Of the 16 individuals old enough to be evaluated for autism, the speech/behavior profiles of seven did not suggest the need for ASD evaluation. Of the remaining nine individuals who had speech/behavior profiles that aroused clinical suspicion of ASD, five had formal evaluations, and three had PDD-NOS. Of the 19 microduplications with parental testing, five were de novo, nine were maternally inherited, and five were paternally inherited. A majority with the microduplication had delayed development and/or specific deficits in speech or language, though these features were not as consistent as seen with the microdeletions. This study, which is the largest cohort of individuals with 16p11.2 alterations reported to date, suggests that 16p11.2 microdeletions and microduplications are associated with a high frequency of cognitive, developmental, and speech delay and behavior abnormalities. Furthermore, although features associated with these alterations can be found in individuals with ASD, additional factors are likely required to lead to the development of ASD.

References

  1. Am J Med Genet A. 2007 Jul 1;143A(13):1462-71 - PubMed
  2. Nature. 2009 May 28;459(7246):569-73 - PubMed
  3. Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87 - PubMed
  4. Eur J Hum Genet. 2008 Apr;16(4):412-21 - PubMed
  5. J Child Neurol. 2002 Apr;17(4):269-71 - PubMed
  6. Am J Hum Genet. 2008 Feb;82(2):477-88 - PubMed
  7. Biol Psychiatry. 2008 Jun 15;63(12):1111-7 - PubMed
  8. N Engl J Med. 2008 Feb 14;358(7):667-75 - PubMed
  9. J Med Genet. 2010 Mar;47(3):195-203 - PubMed
  10. Hum Mol Genet. 2008 Feb 15;17(4):628-38 - PubMed
  11. Genome Res. 2009 Sep;19(9):1682-90 - PubMed
  12. Am J Hum Genet. 1994 Nov;55(5):968-74 - PubMed
  13. Clin Immunol. 2009 Apr;131(1):24-30 - PubMed
  14. Science. 2008 Apr 25;320(5875):539-43 - PubMed
  15. Am J Med Genet A. 2005 Apr 30;134(3):259-67 - PubMed
  16. Trends Genet. 1998 Oct;14(10):417-22 - PubMed
  17. Am J Hum Genet. 2009 Feb;84(2):148-61 - PubMed
  18. J Med Genet. 2006 Feb;43(2):180-6 - PubMed
  19. Mol Cytogenet. 2008 Apr 28;1:8 - PubMed
  20. Nat Rev Genet. 2008 May;9(5):341-55 - PubMed
  21. Science. 2007 Apr 20;316(5823):445-9 - PubMed
  22. Genes Chromosomes Cancer. 2005 Nov;44(3):305-19 - PubMed

Publication Types

Grant support