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Pubmed for Handhelds

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  • Title: Holt-Oram syndrome in four half-siblings with unaffected parents: brief clinical report.
    Author: Braulke I, Herzog S, Thies U, Zoll B.
    Journal: Clin Genet; 1991 Apr; 39(4):241-4. PubMed ID: 2070544.
    Abstract:
    The Holt-Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt-Oram syndrome. In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted to the germline.
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