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