A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.

@article{Caselli2007A2M,
  title={A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.},
  author={Rossella Caselli and Maria Antonietta Mencarelli and Filomena Tiziana Papa and Vera Uliana and Stefania Schiavone and Mirella Strambi and Chiara Pescucci and Francesca Ariani and Valentina Rossi and Ilaria Longo and Ilaria Meloni and Alessandra Renieri and Francesca Mari},
  journal={European journal of medical genetics},
  year={2007},
  volume={50 4},
  pages={315-21}
}
We report a female patient with neurodevelopmental delay and peculiar facial features. She has postnatal growth failure and an atrial septal defect. Patent duct arteriosis and tricuspidal insufficiency were also noted at birth. Characteristic facial features include medial flare eyebrows, dysmorphic helix of the right ear, cupshaped left ear, anteverted nares, long and smooth philtrum, thin upper lip, high vaulted palate. Array-CGH analysis demonstrated the presence of a 2.6 Mb deletion in 6q24… CONTINUE READING

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