A girl with duplication 9q34 syndrome.

@article{GawlikKuklinska2007AGW,
  title={A girl with duplication 9q34 syndrome.},
  author={Katarzyna Gawlik-Kuklinska and Mariola Iliszko and Agnieszka Wozniak and Maria Debiec-Rychter and Iwona Kardaś and Jolanta Wierzba and Janusz Limon},
  journal={American journal of medical genetics. Part A},
  year={2007},
  volume={143A 17},
  pages={2019-23}
}
We report on a 17-year-old female with numerous developmental abnormalities associated with 46,XX,dup(9)(q33.3q34.1), where the duplication occurred de novo. The patient presented with dysmorphic features and notable psychomotor delays, manifestations similar to those described in other reported cases of duplication of 9q34-qter. Due to late presentation and diagnosis, our patient was not evaluated and characterized until adolescence, when particular attention was paid to the development of… CONTINUE READING

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