Ring chromosome 4 mosaicism and Potter sequence.
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.
Fryns
J P
JP
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Kleczkowska
A
A
Jaeken
J
J
Van den Berghe
H
H
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