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

Autor:	Fulcheri, Chiara, Balietti, Paolo, Rabbia, Franco, Schiavone, Domenica, Magnino, Corrado, Abate Daga, Federico, Gollin, Massimiliano, Veglio, Franco
Předmět:	ANEUPLOIDY CARDIOVASCULAR diseases risk factors SYMPTOMS
Zdroj:	High Blood Pressure & Cardiovascular Prevention; Apr2019, Vol. 26 Issue 2, p143-144, 2p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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