| Abstrakt: |
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. |
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