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  • Title: Duplication 12q mosaicism in two unrelated patients with a similar syndrome.
    Author: Harrod MJ, Byrne JB, Dev VG, Francke U.
    Journal: Am J Med Genet; 1980; 7(2):123-9. PubMed ID: 7468644.
    Abstract:
    Two unrelated children with a similar syndrome were found to have mosaicism for a cell line containing one chromosome 12 with an additional faintly G-banding staining region that apparently represents a duplication of the distal portion of the long arm. The homology and the other chromosomes are normal, as are the parental chromosomes. The remarkable phenotypic similarity of the 2 patients and their resemblance to 2 previously reported patients with duplication of the same chromosome region suggests that duplication 12q24 results in a clinically identifiable malformation syndrome.
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