Omenn G S, Hall J G, Hansen K D
Am J Med Genet. 1980;5(2):157-64. doi: 10.1002/ajmg.1320050209.
We present 5 cases in which family history showed that a child given up for adoption some years earlier was at 50% risk for inheritance of Huntington disease, myotonic dystrophy, myotonic dystrophy, Fabry disease, von Willebrand disease, and Waardenburg syndrome, respectively. In all cases, the biological mothers (the probands) requested that the genetic counseling provided for them and their children be shared with the adoptive family. The decision whether or not to seek out the adoptee was based upon explicit assessment of the potential benefits and potential difficulties involved in contacting the adoptive family and attempting to provide genetic counseling. We have formulated some recommendations for dealing with other families with similar separation of relatives by adoption on the basis of these experiences.
我们呈现了5个案例,这些案例中的家族病史表明,数年前被领养的孩子分别有50%的风险遗传亨廷顿舞蹈症、强直性肌营养不良症、法布里病、血管性血友病和瓦登伯革氏综合征。在所有案例中,生母(先证者)要求将为她们及其子女提供的遗传咨询信息告知领养家庭。是否寻找被领养者的决定是基于对联系领养家庭并试图提供遗传咨询所涉及的潜在益处和潜在困难的明确评估。基于这些经验,我们为处理其他因领养而导致亲属分离的类似家庭制定了一些建议。