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特纳综合征的法医学意义。

The forensic implications of Turner's syndrome.

作者信息

Power Theresa, Langlois Neil E I, Byard Roger W

机构信息

School of Medical Sciences, The University of Adelaide, Frome Rd, 21 Divett Place, Adelaide, SA, 5000, Australia.

出版信息

J Forensic Sci. 2014 May;59(3):671-5. doi: 10.1111/1556-4029.12365. Epub 2013 Dec 6.

Abstract

Turner's syndrome, the most common sex chromosome disorder of females, is caused by complete or partial loss of one X chromosome and is associated with a wide range of internal and external manifestations and increased mortality rates (three to nine times the background population). While individuals with Turner's syndrome may survive for many decades, premature and unexpected deaths can occur that bring decedents to the attention of forensic examiners. Causes of death in Turner's syndrome are often linked to underlying cardiovascular conditions such as aortic dissection, congenital cardiovascular disease, ischemic heart, and cerebrovascular disease, but deaths due to noncardiac causes also occur with increased frequency. The latter include epilepsy, diabetes mellitus, chronic renal disease, pneumonia, chronic liver disease, and malignancy. Thus, the autopsy evaluation of these cases requires careful examination of all major organ systems, with the consideration of confirmatory cytogenetic testing.

摘要

特纳综合征是女性最常见的性染色体疾病,由一条X染色体的完全或部分缺失引起,与多种内外表现及死亡率增加(是背景人群的三至九倍)相关。虽然特纳综合征患者可能存活数十年,但也可能发生过早和意外死亡,从而引起法医的注意。特纳综合征的死亡原因通常与潜在的心血管疾病有关,如主动脉夹层、先天性心血管疾病、缺血性心脏病和脑血管疾病,但非心脏原因导致的死亡频率也有所增加。后者包括癫痫、糖尿病、慢性肾病、肺炎、慢性肝病和恶性肿瘤。因此,对这些病例进行尸检评估需要仔细检查所有主要器官系统,并考虑进行确诊的细胞遗传学检测。

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