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J Med Genet. 1997 May;34(5):423-5.

Chromosome 22q11 deletion presenting as the Potter sequence.

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  • 1Centre 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-K├╝ster 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.

PMID:
9152843
PMCID:
PMC1050953
[PubMed - indexed for MEDLINE]
Free PMC Article
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