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

High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension
Chiara FulcheriFranco Veglio

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.

References

May 23, 2003·Human Molecular Genetics·Maolian GongNorbert Hübner
Feb 28, 2006·American Journal of Medical Genetics. Part a·Reeval SegelDiana W Bianchi
Aug 21, 2010·Pediatrics International : Official Journal of the Japan Pediatric Society·Paulo Ricardo Gazzola ZenGiorgio Adriano Paskulin
Jul 27, 2011·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Samantha J LuptonJoanne M Lind

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