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  • Title: Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism.
    Author: Helmuth RA, Weaver DD, Wills ER.
    Journal: Am J Med Genet; 1989 Feb; 32(2):178-81. PubMed ID: 2494886.
    Abstract:
    We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.
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