A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

@article{Gijsbers2008A4D,
  title={A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.},
  author={Antoinet C. J. Gijsbers and Emilia K. Bijlsma and Marjan M. Weiss and Egbert Bakker and Martijn H. Breuning and Mari{\"e}tte J V Hoffer and Claudia A. L. Ruivenkamp},
  journal={European journal of medical genetics},
  year={2008},
  volume={51 5},
  pages={479-87}
}
The presence of a duplication as well as a triplication in one chromosome is a rare rearrangement and not easy to distinguish with routine chromosomal analysis. Recent developments in array technologies, however, not only allow screening of the whole genome at a higher resolution, but also make it possible to characterize complex chromosomal rearrangements in more detail. Here we report a molecular cytogenetic analysis of a 16-year old female with severe mental retardation and an abnormality at… CONTINUE READING