Stevenson R E, Scott C I
J Med Genet. 1976 Oct;13(5):402-4. doi: 10.1136/jmg.13.5.402.
A male infant, the first-born of twins, with features of Cornealia de Lange syndrome is described. His normal twin was discordnat for 3 of the 14 blood loci tested. Chromosomes from the affected infant appeared normal. Though the aetiological basis for the Cornealia de Lange syndrome remains obscure, most authorities accept genetic rather than environmental causation. The present findings of discordance for Cornelia de Lange syndrome in twins support this view but do not clarify the mode of inheritance.
本文描述了一名患有科妮莉亚·德朗格综合征(Cornelia de Lange syndrome)特征的男婴,他是一对双胞胎中的老大。在检测的14个血液位点中,他的正常双胞胎有3个位点不一致。患病婴儿的染色体看起来正常。尽管科妮莉亚·德朗格综合征的病因基础仍不清楚,但大多数权威人士认为是遗传而非环境因素导致的。目前双胞胎中患科妮莉亚·德朗格综合征不一致的发现支持了这一观点,但并未阐明其遗传方式。