Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.

@article{KitsiouTzeli2008DistalD,
  title={Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.},
  author={Sophia Kitsiou-Tzeli and Carolina Sismani and George Koumbaris and Marios Ioannides and Emmanuel Kanavakis and Angeliki Kolialexi and Ariadni Mavrou and Vasiliki Touliatou and Philippos C. Patsalis},
  journal={European journal of medical genetics},
  year={2008},
  volume={51 1},
  pages={61-7}
}
The 4q deletion syndrome, comprising all microscopically visible deletions (interstitial and terminal) is a well-recognized distinctive malformation entity, with an estimated incidence of 1:10,000. Here we present the clinical and molecular findings in a 3-year-old male with a de novo distal deletion of 4q33 [46,XY,del(4) (q33)]. Clinical findings of the patient include: hypertelorism, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip, micro-retrognathia, low… CONTINUE READING

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