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  • Title: Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery.
    Author: Bravo C, Gámez F, Pérez R, Águarón A, De León-Luis J.
    Journal: J Perinatol; 2013 May; 33(5):394-6. PubMed ID: 23624966.
    Abstract:
    Potocki-Lupski syndrome (PTLS) is a rare genetic disorder associated with neurodevelopmental delay and heart defects. We report the first case of prenatal diagnosis of PTLS in a fetus with hypoplastic left heart and aberrant right subclavian artery. Detection of a fetal heart defect should be followed by chromosomal and genetic studies in order to rule out fetal aneuploidy and/or associated genetic syndromes with significant implications for the treatment of children with PTLS.
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