Chromosome 22q11 deletion presenting as the Potter sequence

J Med Genet. 1997 May;34(5):423-5. doi: 10.1136/jmg.34.5.423.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Female
  • Fetus / abnormalities*
  • Fetus / physiopathology
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / pathology
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Kidney / abnormalities*
  • Kidney Diseases / genetics*
  • Kidney Diseases / pathology
  • Male
  • Pregnancy

Substances

  • Genetic Markers