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[通过羊水细胞对脆性X染色体男性胎儿携带者进行产前诊断]

[Prenatal diagnosis of a male fetal carrier of fragile X chromosome by the amniotic fluid cells].

作者信息

Tejada I, Boué J, Gilgenkrantz S

出版信息

Ann Genet. 1983;26(4):247-50.

PMID:6607707
Abstract

A prenatal diagnosis of fragile X fra(X)(q28) has been performed in a pregnant woman obligate carrier of fra(X) by analysis of amniotic fluid cells taken by amniocentesis. The fra(X) has been observed in 30% (8/26) of the metaphases of the male fetus. These results were obtained within 10 days after amniocentesis using the in situ technique on cells grown first in Ham Medium supplemented with newborn calf serum and a serum substitute and changed for the last 19 hours with Tc 199 medium with 5% newborn calf serum and methotrexate (10 mg/l). This technique showed that fra(X) is not a clonal phenomenon and that its expression is related to the cell types and the origin of the studied cells.

摘要

通过对羊膜穿刺术获取的羊水细胞进行分析,对一名脆性X染色体[fra(X)(q28)] obligate携带者孕妇进行了产前诊断。在男性胎儿的中期细胞中,观察到30%(8/26)的细胞存在脆性X染色体。这些结果是在羊膜穿刺术后10天内获得的,采用原位技术,细胞先在添加了新生牛血清和一种血清替代品的哈姆培养基中培养,最后19小时更换为含5%新生牛血清和甲氨蝶呤(10毫克/升)的Tc 199培养基。该技术表明,脆性X染色体不是一种克隆现象,其表达与所研究细胞的类型和来源有关。

相似文献

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Second trimester prenatal diagnosis of the fragile X.孕中期对脆性X综合征进行产前诊断。
Am J Med Genet. 1986 Jan-Feb;23(1-2):313-24. doi: 10.1002/ajmg.1320230124.
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Experience with prenatal fragile X detection.
Am J Med Genet. 1984 Jan;17(1):215-39. doi: 10.1002/ajmg.1320170114.
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Prenatal diagnosis of the fra(X) syndrome.脆性X综合征的产前诊断。
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