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Research Article
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.
  1. J O Van Hemel,
  2. C Schaap,
  3. D Van Opstal,
  4. M P Mulder,
  5. M F Niermeijer,
  6. J H Meijers
  1. Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.

    Abstract

    We report on a prenatal diagnosis by FISH of a familial 22q11 deletion associated with DiGeorge syndrome (DGS). The deletion was seen in the proband with symptoms of full DGS, in the physically normal father, and in a subsequent pregnancy. After birth this child showed hypocalcaemia, a T cell deficit, and a right sided aortic arch.

    https://doi.org/10.1136/jmg.32.8.657

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