Mosaic trisomy 20 and mitigation in capital crimes sentencing: A review and case report

Montplaisir Rose; Lee Erica; Moreno‐De‐Luca Daniel; Myers Wade C.

摘要

Abstract > Trisomy 20 is a genetic abnormality in which individuals have an extra copy of chromosome 20. Complete trisomy 20 is rare and believed to be incompatible with life. A mosaic form of trisomy 20, in which only some cells or tissues contain the extra chromosome, is a relatively commonly encountered chromosomal abnormality found during prenatal testing, and c. 90% result in a normal phenotype. However, despite the absence of a consistent phenotype, certain findings have been reported across multiple cases of mosaic trisomy 20. These include an array of morphological findings, developmental delays, and learning disabilities. Beyond physical manifestations, a wide range of developmental and learning delays have also been reported. In this work, we provide an overview of the trisomy 20 literature and a case report of a young adult male with mosaic trisomy 20 who committed homicide. His developmental and life history, eventual diagnosis of mosaic trisomy 20, similarities and differences in his condition compared with prior research findings, and potentially new phenotypic findings associated with trisomy 20 that he manifested (childhood visual hallucinations, self‐injury, polydactyly) are presented. Additionally, the potential role of this genetic diagnosis in his neuropsychiatric history and its successful application as a mitigating factor at his capital sentencing trial are described. We did not identify other similar cases during our search of major scientific and legal databases. As a backdrop, the use of genetics in criminal trials is on the rise, and courts are increasingly likely to accept behavioral genetics evidence; therefore, it is crucial that the legal system is well acquainted with the opportunities and limitations of these approaches. </abstract> </span> <span class="z_kbtn z_kbtnclass hoverxs" style="display: none;">展开▼</span> </div> <div class="translation abstracttxt"> <span class="zhankaihshouqi fivelineshidden" id="abstract"> <span>机译：</span><Abstract Type =“Main”XML：Lang =“en”> <标题类型=“main”>抽象</ title> > 三元构20是一种遗传异常，其中个体具有额外的染色体拷贝副本20.完整的三胞体20是罕见的，并且认为与寿命不相容。一种三元体20的马赛克形式，其中只有一些细胞或组织含有额外的染色体，是在产前检测期间发现的相对常见的染色体异常，以及 c。</ i> 90％导致正常的表型。然而，尽管没有呈一致的表型，但是在马赛克三兆癣20例中已经报道了某些结果。这些包括形态学发现，发育延误和学习障碍的阵列。除了物理表现之外，还报告了广泛的发展和学习延误。在这项工作中，我们概述了三兆数的20文学和一个年轻成年男性的案例报告，其中杀人的马赛克三胞长20。他的发展和生命历史，最终诊断马赛克三兆癣20，与先前的研究结果相比，他的病情的相似性和差异，以及与三元图20相关的新表型发现，他表现出来（儿童的视觉幻觉，自我伤害，多元症）都是如此。此外，还描述了这种遗传诊断在他的神经精神历史中的潜在作用及其作为其资本判决试验的减轻因素的成功应用。在我们寻求主要科学和法律数据库期间，我们没有识别其他类似的案例。作为背景，在刑事审判中使用遗传正在上升，法院越来越可能接受行为遗传学证据;因此，法律制度非常熟悉这些方法的机遇和局限性至关重要。 </ p> </摘要> </span> <span class="z_kbtn z_kbtnclass hoverxs" style="display: none;">展开▼</span> </div> </div> <div class="record"> <h2 class="all_title" id="enpatent33" >著录项</h2> <ul> <li> <span class="lefttit">来源</span> <div style="width: 86%;vertical-align: text-top;display: inline-block;"> <a href='/journal-foreign-17060/'>《Behavioral sciences & the law》</a> <b style="margin: 0 2px;">|</b><span>2019年第5期</span><b style="margin: 0 2px;">|</b><span>共10页</span> </div> </li> <li> <div class="author"> <span class="lefttit">作者</span> <p id="fAuthorthree" class="threelineshidden zhankaihshouqi"> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Montplaisir Rose&option=202" target="_blank" rel="nofollow">Montplaisir Rose;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Lee Erica&option=202" target="_blank" rel="nofollow">Lee Erica;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Moreno‐De‐Luca Daniel&option=202" target="_blank" rel="nofollow">Moreno‐De‐Luca Daniel;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Myers Wade C.&option=202" target="_blank" rel="nofollow">Myers Wade C.;</a> </p> <span class="z_kbtnclass z_kbtnclassall hoverxs" id="zkzz" style="display: none;">展开▼</span> </div> </li> <li> <div style="display: flex;"> <span class="lefttit">作者单位</span> <div style="position: relative;margin-left: 3px;max-width: 639px;"> <div class="threelineshidden zhankaihshouqi" id="fOrgthree"> <p>Department of Psychiatry and Human BehaviorAlpert Medical School of Brown UniversityProvidence RI USA;</p> <p>Department of Psychiatry and Human BehaviorAlpert Medical School of Brown UniversityProvidence RI USA;</p> <p>Department of Psychiatry and Human BehaviorAlpert Medical School of Brown UniversityProvidence RI USA;</p> <p>Department of Psychiatry and Human BehaviorAlpert Medical School of Brown UniversityProvidence RI USA;</p> </div> <span class="z_kbtnclass z_kbtnclassall hoverxs" id="zhdw" style="display: none;">展开▼</span> </div> </div> </li> <li > <span class="lefttit">收录信息</span> <span style="width: 86%;vertical-align: text-top;display: inline-block;"></span> </li> <li> <span class="lefttit">原文格式</span> <span>PDF</span> </li> <li> <span class="lefttit">正文语种</span> <span>eng</span> </li> <li> <span class="lefttit">中图分类</span> <span><a href="https://www.zhangqiaokeyan.com/clc/44.html" title="心理学">心理学;</a></span> </li> <li class="antistop"> <span class="lefttit">关键词</span> <p style="width: 86%;vertical-align: text-top;"> </p> </li> </ul> </div> </div> <div class="literature cardcommon" 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