Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability.

@article{Moeschler2008MedicalGD,
  title={Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability.},
  author={John B. Moeschler},
  journal={Current opinion in neurology},
  year={2008},
  volume={21 2},
  pages={
          117-22
        }
}
PURPOSE OF REVIEW The review addresses the recent discovery of large-scale copy number variations in the human genome and advances in microarray technology which together have changed the clinical genetic diagnostic approach for children with global developmental delay. RECENT FINDINGS Several publications in the last three years evaluate the diagnostic rate of array comparative genomic hybridization (aCGH) in the setting of global developmental delay; to date, the rate of etiologic diagnosis… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 41 CITATIONS

References

Publications referenced by this paper.
SHOWING 1-10 OF 33 REFERENCES

Molecular characterization of patients with subtelomeric 22 q abnormalities using chromosome specific arraybased comparative genomic hybridization

  • DA Koolen, W Reardon, EM Rosser, D Lacombe
  • Neurology
  • 2007

Similar Papers

Loading similar papers…