Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.

@article{Vissers2010GenomicMI,
  title={Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.},
  author={Lisenka E L M Vissers and Bert B A de Vries and Joris A. Veltman},
  journal={Journal of medical genetics},
  year={2010},
  volume={47 5},
  pages={289-97}
}
Structural chromosomal rearrangements can lead to a wide variety of serious clinical manifestations, including mental retardation (MR) and congenital malformations. Over the last few years, rearrangements below the detection level of conventional karyotyping have been proved to contribute significantly to the cause of MR. These so-called copy number variations are now routinely being detected using various high-resolution microarray platforms targeting the entire human genome. In addition to… CONTINUE READING