title: 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.
mesh_terms: D000649:Amniocentesis; D003635:De Lange Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000235:genetics*; D011296:Prenatal Diagnosis