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

Affiliation

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. [Email]

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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