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Research Article
De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.
  1. F Speleman,
  2. M Craen,
  3. J Leroy
  1. Department of Medical Genetics, University Hospital Ghent, Belgium.

    Abstract

    A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.

    https://doi.org/10.1136/jmg.26.8.528

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