A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome

  title={A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome},
  author={L. Roos and A. J{\o}nch and S. Kjaergaard and K. Taudorf and H. Simonsen and B. Hamborg-Petersen and K. Br{\o}ndum‐Nielsen and M. Kirchhoff},
  journal={Journal of Medical Genetics},
  pages={703 - 710}
  • L. Roos, A. Jønch, +5 authors M. Kirchhoff
  • Published 2009
  • Biology, Medicine
  • Journal of Medical Genetics
  • BACKGROUND The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further delineation. [...] Key Method Detailed clinical information was obtained from patient files and personal examinations. Expand Abstract
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