Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

@article{Aldinger2013CerebellarAP,
  title={Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.},
  author={Kimberly A. Aldinger and Jillene Kogan and Virginia Kimonis and B F Mestre Fern{\'a}ndez and Denise Horn and Eva Klopocki and Brian Chung and Annick Toutain and Rosanna A Weksberg and Kathleen J. Millen and A. James Barkovich and William B Dobyns},
  journal={American journal of medical genetics. Part A},
  year={2013},
  volume={161A 1},
  pages={131-6}
}
The 22q13.3 deletion causes a neurodevelopmental syndrome, also known as Phelan-McDermid syndrome (MIM #606232), characterized by developmental delay and severe delay or absence of expressive speech. Two patients with hemizygous chromosome 22q13.3 telomeric deletion were referred to us when brain-imaging studies revealed cerebellar vermis hypoplasia (CBVH). To determine whether developmental abnormalities of the cerebellum are a consistent feature of the 22q13.3 deletion syndrome, we examined… CONTINUE READING
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