近亲结婚、心脏骤停、听力障碍和心电图异常：罗曼诺-沃德综合征的咨询陷阱
Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.
作者信息
Reardon W, Lewis N, Hughes H E
机构信息
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.
出版信息
J Med Genet. 1993 Apr;30(4):325-7. doi: 10.1136/jmg.30.4.325.
Abstract
Genetic counselling in the autosomal dominant condition of the Romano-Ward syndrome might be assumed to be relatively straightforward. The problems posed by consanguinity, deafness, and subclinical gene carriers in a pedigree with this condition have caused us to reevaluate this view. The diagnostic and management difficulties which may attend this potentially fatal condition are highlighted by our experience with this family.
摘要
对于常染色体显性遗传的 Romano-Ward 综合征，遗传咨询可能被认为相对简单直接。然而，在一个患有这种疾病的家系中，近亲结婚、耳聋以及亚临床基因携带者所带来的问题，让我们重新审视了这一观点。我们对这个家族的诊疗经历突显了这种潜在致命疾病可能伴随的诊断和管理难题。
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