Pregnancy in a woman with the Brachmann-de Lange syndrome

Abstract

We present the first reported pregnancy in a woman with the Brachmann‐de Lange syndrome. This 24‐year‐old primagravid woman was originally seen at 13 weeks of pregnancy with manifestations consistent with this diagnosis. High‐resolution chromosome studies, performed on lymphocytes, showed a normal 46,XX chromosome constitution. Because of the stage of pregnancy at which she presented, a genetic amniocentesis was simultaneously performed for chromosome analysis on the fetal cells, which were also normal (46,XX). The uncomplicated pregnancy was monitored carefully and at 37 1/2 weeks of gestation she delivered a clinically normal‐appearing female infant.