title: Chromosome 22q11 deletion presenting as the Potter sequence.
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.
authors.affiliation: Centre for Human Genetics, University Hospital Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: D
authors.initials: D
authors.lastname: Van Schoubroeck
authors.forename: K
authors.initials: K
authors.lastname: Vandenberghe
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000002:abnormalities* / Q000503:physiopathology; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000473:pathology; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D011247:Pregnancy
chemical_list: D005819:Genetic Markers