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

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 h...

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Bibliographic Details
Published in:High blood pressure & cardiovascular prevention 2019-04, Vol.26 (2), p.143-144
Main Authors: Fulcheri, Chiara, Balietti, Paolo, Rabbia, Franco, Schiavone, Domenica, Magnino, Corrado, Abate Daga, Federico, Gollin, Massimiliano, Veglio, Franco
Format: Article
Language:English
Subjects:
Birth defects
Blood pressure
Cardiology
Case Report
Case reports
Cholesterol
Chromosomes
Conflicts of interest
Congenital diseases
Dietary supplements
Genomes
Headaches
Health risks
Hypertension
Intellectual disabilities
Medical screening
Medicine
Medicine & Public Health
Mental disorders
Pharmacotherapy
Statins
Ultrasonic imaging
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Summary: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.
ISSN:1120-9879
1179-1985
DOI:10.1007/s40292-019-00307-7