Jongbloet P H
Maria Roepaan, Centre for the Mentally Handicapped, Ottersum; The Netherlands.
J Med Genet. 1987 Oct;24(10):616-20. doi: 10.1136/jmg.24.10.616.
In contrast to the opinion of Yovich et al, who documented Goldenhar syndrome in one of possibly monozygous twin brothers conceived by in vitro fertilisation and embryo transfer, I suggest that ovopathy is the cause of this anomaly. The eight criteria which have to be met before a condition can be said to be caused by overripeness ovopathy are shown to be satisfied. My conclusion remains that, in general, sporadically occurring Goldenhar variants, as distinct from familial cases, should be considered to be just casualities in the broad 'continuum of reproductive wastage' seen in high risk conceptions, one of which is IVF. This concept increases our understanding of human variation not satisfactorily explained by Mendelian inheritance.
与约维奇等人的观点相反，他们记录了通过体外受精和胚胎移植受孕的一对可能为单卵双胞胎兄弟中的一人患有Goldenhar综合征，我认为卵子病变是这种异常的原因。文中表明，在一种病症可被认为是由过熟卵子病变引起之前必须满足的八项标准均已得到满足。我的结论仍然是，一般来说，与家族性病例不同，偶发性的Goldenhar变异体应被视为高风险受孕（其中之一是体外受精）中广泛存在的“生殖浪费连续体”中的偶然事件。这一概念增进了我们对孟德尔遗传无法令人满意解释的人类变异的理解。
