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Chromosome 22q11 deletion presenting as the Potter sequence.
  1. K Devriendt,
  2. P Moerman,
  3. D Van Schoubroeck,
  4. K Vandenberghe,
  5. J P Fryns
  1. Centre for Human Genetics, University Hospital Leuven, Belgium.

    Abstract

    A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated anomaly was agenesis of the uterus and oviducts (Von Mayer-Rokitansky-Küster anomaly). The deletion was inherited from the father, who presented the typical velocardiofacial syndrome phenotype, but no urological anomalies. This observation further extends the clinical spectrum associated with a deletion in 22q11.

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