Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.

@article{Chui2011ClinicalAM,
  title={Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.},
  author={Jacqueline V Chui and James D. Weisfeld-Adams and James H. Tepperberg and Lakshmi Mehta},
  journal={American journal of medical genetics. Part A},
  year={2011},
  volume={155A 10},
  pages={2508-11}
}
A 28-month-old Peruvian male presented with speech delay and unusual facial features including prominent forehead, anteverted nares, ocular hypertelorism, and low-set and posteriorly rotated ears with a unilateral preauricular pit. The patient had poor speech with no other developmental delays. Height and weight were normal, although closure of the anterior fontanel and bone age were delayed. Head circumference approximated the 95th centile for age. Following normal routine chromosome analysis… CONTINUE READING
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