Chromosome 22q11 deletion presenting as the Potter sequence.
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.
Devriendt
K
K
Centre for Human Genetics, University Hospital Leuven, Belgium.
Moerman
P
P
Van Schoubroeck
D
D
Vandenberghe
K
K
Fryns
J P
JP
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
D005819:Genetic Markers