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  • Title: Ring chromosome 4 mosaicism and Potter sequence.
    Author: Fryns JP, Kleczkowska A, Jaeken J, Van den Berghe H.
    Journal: Ann Genet; 1988; 31(2):120-2. PubMed ID: 3261147.
    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.
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