• High Blood Press Cardiovasc Prev · Apr 2019

    Case Reports

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

    • Chiara Fulcheri, Paolo Balietti, Franco Rabbia, Domenica Schiavone, Corrado Magnino, Federico Abate Daga, Massimiliano Gollin, and Franco Veglio.
    • Division of Internal Medicine, Hypertension Unit, Department of Medical Sciences, University of Turin, Città della Salute e della Scienza, Via Genova 3, 10126, Turin, Italy. chiara.fulcheri@gmail.com.
    • High Blood Press Cardiovasc Prev. 2019 Apr 1; 26 (2): 143-144.

    AbstractTrisomy 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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