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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Acknowledgements
This work was supported by Fondo de Investigaciones Sanitarias (FIS#PI081712 and [BA#09/90011]). We are grateful to Thomas O’Boyle for his editorial assistance.
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Bravo, C., Gámez, F., Pérez, R. et al. Prenatal diagnosis of Potocki–Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery. J Perinatol 33, 394–396 (2013). https://doi.org/10.1038/jp.2012.77
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DOI: https://doi.org/10.1038/jp.2012.77
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