title: Ring chromosome 4 mosaicism and Potter sequence.
abstract: A 46,XY/46,XY,r(4) mosaicism is described in a malformed male newborn with bilateral renal agenesis. A review of the phenotypic findings in the previously reported ring chromosome 4 patients is made and the importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.
authors.affiliation: Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: A
authors.initials: A
authors.lastname: Kleczkowska
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes