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  • Title: Persistent truncus arteriosus in monozygotic twins: case report and literature review.
    Author: Mas C, Delatycki MB, Weintraub RG.
    Journal: Am J Med Genet; 1999 Jan 15; 82(2):146-8. PubMed ID: 9934979.
    Abstract:
    We report on a pair of monozygotic twins with persistent truncus arteriosus. They had no evident clinical signs of DiGeorge syndrome. Pathologic examination of the placenta and DNA analysis in chromosomes 7, 8, and 15 was consistent with monozygosity. Fluorescence in situ hybridization test was negative for chromosome 22q11 microdeletion. Family history revealed a female cousin with tetralogy of Fallot. The isolated presence of this conotruncal abnormality in monozygotic twins is extremely rare. The genetic considerations are discussed.
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