Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

@inproceedings{Blazejewski2018NeurodevelopmentalGD,
  title={Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3},
  author={Sara M. Blazejewski and Sarah A. Bennison and Trevor H. Smith and Kazuhito Toyo-oka},
  booktitle={Front. Genet.},
  year={2018}
}
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred. Chromosome microdeletions within 17p13.3 can result in either isolated lissencephaly sequence (ILS) or Miller-Dieker syndrome (MDS). Both conditions are associated with a smooth cerebral cortex, or lissencephaly, which leads to developmental delay, intellectual disability, and seizures. However… CONTINUE READING