Mosher G A, Schulte R L, Kaplan P A, Buehler B A, Sanger W G
Am J Med Genet. 1985 Sep;22(1):103-7. doi: 10.1002/ajmg.1320220111.
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.
我们报告了第一例患有布-德二氏综合征（Brachmann-de Lange syndrome）女性的妊娠情况。这位24岁的初孕妇在妊娠13周时首次就诊，临床表现符合该综合征的诊断。对淋巴细胞进行的高分辨率染色体研究显示，其染色体组成为正常的46,XX。由于她就诊时处于妊娠阶段，同时进行了遗传羊膜穿刺术，对胎儿细胞进行染色体分析，结果也正常（46,XX）。对此次未出现并发症的妊娠进行了密切监测，妊娠37 1/2周时，她产下了一名外观临床正常的女婴。
