Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q

@article{Akshoomoff2015EvidenceFA,
  title={Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q},
  author={Natacha Akshoomoff and Sarah N Mattson and Paul D. Grossfeld},
  journal={Genetics in Medicine},
  year={2015},
  volume={17},
  pages={143-148}
}
Purpose:Jacobsen syndrome, also called the 11q terminal deletion disorder, is a contiguous gene disorder caused by the deletion of the end of the long arm of chromosome 11. Intellectual skills range from low average to severe/profound intellectual disability and usually correlate with deletion size. Comprehensive genotype/phenotype evaluations are limited, and little is known about specific behavioral characteristics associated with 11q terminal deletion disorder.Methods:In this prospective… CONTINUE READING
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