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亨廷顿舞蹈症:一项描述同卵双胞胎预测性检测的复杂性和细微差别的案例研究。

Huntington disease: a case study describing the complexities and nuances of predictive testing of monozygotic twins.

作者信息

Heimler Audrey, Zanko Andrea

出版信息

J Genet Couns. 1995 Jun;4(2):125-37. doi: 10.1007/BF01408635.

Abstract

When a candidate for predictive testing for the Huntington disease gene is a monozygotic twin, confidentiality of the co-twin's diagnosis and autonomy of participation are among the critical genetic counseling issues. Predictive testing can proceed when twins voluntarily and simultaneously request counseling and evaluation in an HD testing program. This case describes a young man referred for predictive testing to an HD testing site on the East Coast of the United States. Family history revealed a twin brother of unknown zygosity who resided on the West Coast of the United States. The genetic counselors on opposite coasts collaborated to provide genetic counseling and evaluation for voluntary, informed predictive testing of the twins, protecting their rights while observing national protocol guidelines

摘要

当亨廷顿舞蹈症基因预测性检测的候选对象是同卵双胞胎时,双胞胎之一的诊断保密性和参与自主性是关键的遗传咨询问题。当双胞胎自愿且同时要求在亨廷顿舞蹈症检测项目中接受咨询和评估时,预测性检测可以进行。本案例描述了一名被转介到美国东海岸一个亨廷顿舞蹈症检测点进行预测性检测的年轻人。家族史显示有一个居住在美国西海岸、合子性未知的双胞胎兄弟。东西两岸的遗传咨询师合作,为双胞胎进行自愿、知情的预测性检测提供遗传咨询和评估,在遵守国家协议指南的同时保护他们的权利。

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