McConkie-Rosell A, Robinson H, Wake S, Staley L W, Heller K, Cronister A
Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.
Am J Med Genet. 1995 Dec 4;59(4):426-30. doi: 10.1002/ajmg.1320590406.
Fragile X Syndrome, which affects 1 in 1,250 males, is the most common inherited condition causing mental retardation. Although carrier detection for the fragile X syndrome utilizing DNA has now been simplified, genetic counseling and the process of informing at-risk family members remains complex. The purpose of this paper is to offer practical guidelines to health professionals providing genetic counseling to fragile X families in order to facilitate the dissemination of genetic risk information to relatives. This paper was developed from a workshop held at the 4th International Fragile X Conference. The guidelines presented here represent a beginning in the development of an approach to informing relatives in fragile X families about genetic risk, and the identification of mechanisms to reduce the burden to families.
脆性X综合征影响着1250分之一的男性，是导致智力迟钝最常见的遗传性疾病。尽管利用DNA检测脆性X综合征携带者的方法现已简化，但遗传咨询以及向高危家庭成员通报情况的过程仍然复杂。本文旨在为向脆性X家庭提供遗传咨询的健康专业人员提供实用指南，以促进向亲属传播遗传风险信息。本文源自于在第四届国际脆性X会议上举办的一次研讨会。这里提出的指南是脆性X家庭中向亲属通报遗传风险方法及确定减轻家庭负担机制的开端。
