7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

@article{Caselli20157p221MS,
  title={7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.},
  author={Rossella Caselli and Lucia Ballarati and Aglaia Vignoli and Angela Peron and Maria Paola Recalcati and Ilaria Catusi and L Larizza and Daniela Giardino},
  journal={European journal of medical genetics},
  year={2015},
  volume={58 11},
  pages={578-83}
}
A new 7p22.1 microduplication syndrome characterized by intellectual disability, speech delay and craniofacial dysmorphisms, such as macrocephaly, hypertelorism and ear anomalies, has been outlined by the description of two patients with interstitial microduplications confined to 7p22.1 and the recently defined minimal overlapping 430 kb critical region including five genes. Here we report on the first adult patient aged 35 years with moderate intellectual disability, psychomotor delay, facial… CONTINUE READING

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