A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome

Abstract

A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.