Discordance for Cornelia de Lange syndrome in twins.

Abstract

A male infant, the 1st-born of twins, with features of Cornelia de Lange syndrome is described. His normal twin was discordant for 3 of the 14 blood loci tested. Chromosomes from the affected infant appeared normal. Although the etiological basis for the Cornelia 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.