Trisomy of the Short Arm of Chromosome 12 Associated with High Cardiovascular Risk: A Case Report
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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.
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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Conflict of interest
We declare no conflict of interest.
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