Article Text

PDF

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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.