Fryns J P, Kleczkowska A, Jaeken J, Van den Berghe H
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Ann Genet. 1988;31(2):120-2.
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.
