Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.

@article{Shoukier2013MicroduplicationO3,
  title={Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.},
  author={Moneef Shoukier and Sigrid Fuchs and Eva Maria Christina Schwaibold and Michael Lingen and Jutta Gaertner and Knut Brockmann and Birgit Zirn},
  journal={Neuropediatrics},
  year={2013},
  volume={44 5},
  pages={268-71}
}
Terminal deletions of chromosome 3p26.3 confined to the CHL1 gene have previously been described in children with intellectual disability and epilepsy. Here, we report for the first time, a 3p26.3 duplication including only the CHL1 gene in an intellectually disabled girl with epilepsy. The penetrance of both deletions and duplications in 3p26.3 is reduced because all chromosomal imbalances were inherited from healthy parents. Further studies are needed to specify the pathogenic mechanism of… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 1 time. VIEW TWEETS

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 13 extracted citations

Microduplication of 3p26.3 Implicated in Cognitive Development

Case reports in genetics • 2014
View 10 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…