三代人中出现的主动脉缩窄、主动脉弓中断和左心发育不全综合征。
Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.
作者信息
Gerboni S, Sabatino G, Mingarelli R, Dallapiccola B
机构信息
Servizio di Patologia Neonatale, Università di Chieti, Italy.
出版信息
J Med Genet. 1993 Apr;30(4):328-9. doi: 10.1136/jmg.30.4.328.
Abstract
Five members in three generations of a family were affected by a congenital heart disease. Four of them had mild or severe coarctation of the aorta (CoA), either isolated or in association with other cardiac defects. Fetal echocardiography allowed prenatal diagnosis in one pregnancy at risk. This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with high penetrance and variable expressivity rather than polygenic inheritance.
摘要
一个家族的三代中有五名成员患有先天性心脏病。其中四人患有轻度或重度主动脉缩窄（CoA），可为孤立性或与其他心脏缺陷并存。胎儿超声心动图在一次有风险的妊娠中实现了产前诊断。这个家族提示，一种罕见形式的CoA可能是常染色体显性高 penetrance 和可变表达性突变的结果，而非多基因遗传。 （注：penetrance 这个词在医学遗传学中常译为“外显率” ，这里直接保留英文，因为指令要求不添加任何解释或说明 ）
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