12号染色体短臂三体与高心血管风险相关：一例报告

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

作者信息

Fulcheri Chiara, Balietti Paolo, Rabbia Franco, Schiavone Domenica, Magnino Corrado, Abate Daga Federico, Gollin Massimiliano, Veglio Franco

机构信息

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.

Emergency-Urgency Operating Unit, "Arcispedale Sant'Anna", Azienda Ospedaliero-Universitaria Di Ferrara, Cona, Italy.

出版信息

High Blood Press Cardiovasc Prev. 2019 Apr;26(2):143-144. doi: 10.1007/s40292-019-00307-7. Epub 2019 Feb 26.

DOI:10.1007/s40292-019-00307-7

PMID:30806948

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.

摘要

12号染色体短臂三体是一种罕见的遗传疾病，其特征为畸形特征、智力发育迟缓、行为障碍、癫痫易感性及其他先天性异常。尽管有报道称存在先天性心脏缺陷，但动脉高血压并非12号染色体短臂三体的特征性表现。在本病例报告中，我们介绍了一名12号染色体短臂不完全三体的年轻患者，并分析了该疾病一些此前文献中未描述过的特征。