Abstract
Trisomy of the short arm of chromosome 12 is a rare genetic disease characterised by dysmorphic features, mental retardation, behavioural disorders, seizures predisposition and other congenital abnormalities. Arterial hypertension is not a characteristic feature of 12p trisomy, although congenital heart defects are reported. In this case report, we present a young patient with incomplete trisomy 12p, analysing some characteristics of this disease that have not been previously described in literature.
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Acknowledgements
This work was supported by “Progetti di Ricerca Finanziati dall’Università degli Studi di Torino (ex 60%) 2016–2017”. We would like to thank the boy’s family for their collaboration. Written informed consent was obtained from the parents for the publication of this case report.
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Fulcheri, C., Balietti, P., Rabbia, F. et al. Trisomy of the Short Arm of Chromosome 12 Associated with High Cardiovascular Risk: A Case Report. High Blood Press Cardiovasc Prev 26, 143–144 (2019). https://doi.org/10.1007/s40292-019-00307-7
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DOI: https://doi.org/10.1007/s40292-019-00307-7