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Trisomy of the Short Arm of Chromosome 12 Associated with High Cardiovascular Risk: A Case Report

  • Chiara FulcheriEmail author
  • Paolo Balietti
  • Franco Rabbia
  • Domenica Schiavone
  • Corrado Magnino
  • Federico Abate Daga
  • Massimiliano Gollin
  • Franco Veglio
Case Report
  • 16 Downloads

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.

Notes

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.

Compliance with Ethical Standards

Conflict of interest

We declare no conflict of interest.

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Copyright information

© Italian Society of Hypertension 2019

Authors and Affiliations

  1. 1.Division of Internal Medicine, Hypertension Unit, Department of Medical SciencesUniversity of Turin, Città della Salute e della ScienzaTurinItaly
  2. 2.Emergency-Urgency Operating Unit, “Arcispedale Sant’Anna” Azienda Ospedaliero-Universitaria Di FerraraConaItaly
  3. 3.Department of Medical SciencesUniversity of TurinTurinItaly
  4. 4.Department of Clinical and Biological SciencesUniversity of TurinTurinItaly

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