9号染色体三体嵌合体的产前诊断

Prenatal diagnosis of mosaic trisomy 9.

作者信息

Zadeh T M, Peters J, Sandlin C

出版信息

Prenat Diagn. 1987;7(1):67-70. doi: 10.1002/pd.1970070110.

DOI:10.1002/pd.1970070110

Abstract

Mosaic trisomy 9 was detected in an amniotic fluid cell culture from a 40-year-old woman evaluated because of advanced maternal age. After counselling, parents elected to terminate the pregnancy. On autopsy the fetus was found to have hydrocephalus and a single kidney. The diagnosis of trisomy 9 mosaicism was confirmed in cultured skin fibroblasts. This is the third reported case of trisomy 9 mosaicism diagnosed prenatally.

摘要

在对一名因高龄产妇接受评估的40岁女性的羊水细胞培养物中检测到9号染色体镶嵌三体。咨询后，父母选择终止妊娠。尸检发现胎儿患有脑积水和单肾。在培养的皮肤成纤维细胞中证实了9号染色体三体镶嵌的诊断。这是第三例产前诊断为9号染色体三体镶嵌的病例报告。