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与7号染色体重复片段相关的心血管异常。

The cardiovascular abnormalities associated with duplicated segments of chromosome 7.

作者信息

Talley J D, Dooley K J, Tuboku-Metzger A, Burgess G H, Wilcox W D, Click L A, Blackston R D

机构信息

Department of Medicine, Emory University School of Medicine, Atlanta, Georgia.

出版信息

Clin Cardiol. 1989 Apr;12(4):227-32. doi: 10.1002/clc.4960120410.

Abstract

Congenital heart disease is an integral part of many genetic syndromes such as the major trisomies 13, 18, and 21. Little information, however, is available with reference to the incidence of cardiac anomalies in the trisomy 7 syndromes. Two patients with partial trisomy 7q, one of whom had congenital heart disease, are presented. A review of the literature reveals incomplete description of the cardiovascular abnormalities in the majority of case reports of patients with this syndrome, however, when described it appears that there are no specific defects associated with trisomy 7p and 7q, but only an increased frequency of occurrence. Further clinical and postmortem data regarding details of the congenital heart defects associated with trisomy 7 is required to confirm this preliminary observation.

摘要

先天性心脏病是许多遗传综合征(如13、18和21号三体综合征)的一个组成部分。然而,关于7号三体综合征中心脏异常的发生率,相关信息较少。本文报告了2例7号染色体长臂部分三体患者,其中1例患有先天性心脏病。文献综述显示,在该综合征患者的大多数病例报告中,对心血管异常的描述并不完整,然而,当有描述时,似乎与7号染色体短臂和长臂三体并无特定的缺陷相关,只是发生率有所增加。需要更多关于7号三体相关先天性心脏缺陷细节的临床和尸检数据来证实这一初步观察结果。

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