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

• DOI: 10.1007/s40292-019-00307-7
• Publication Date: 2019-02-26T12:42:06Z
• Authors: Chiara Fulcheri; Paolo Balietti; Franco Rabbia; Domenica Schiavone; Corrado Magnino; Federico Abate Daga; Massimiliano Gollin; Franco Veglio
• Keywords: Trisomy; Chromosome 12; Long arm

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.