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[羊膜细胞培养中的20号染色体三体嵌合体。产前诊断期间的遗传咨询]

[Trisomy 20 mosaicism in amniotic cell culture. Genetic counselling during the prenatal diagnosis].

作者信息

Rabineau D

机构信息

Service d"istologie-Embryologie-Cytogénétique, Groupe hospitalier Cochin, Paris.

出版信息

Presse Med. 1991 Sep 14;20(28):1327-9.

PMID:1833736
Abstract

The author presents a new case of trisomy 20 mosaicism in an amniotic fluid culture and emphasizes the special aspects of this chromosomal abnormality. The prenatal diagnosis of "pseudo-mosaicism" is easier when in situ culture techniques are used. Controls of the results on a new sample of amniotic fluid and/or on foetal blood are useful to reinforce the diagnosis and to allow pregnancy to be continued.

摘要

作者报告了一例羊水培养中20三体嵌合体的新病例,并强调了这种染色体异常的特殊方面。采用原位培养技术时,“假嵌合体”的产前诊断更容易。对新的羊水样本和/或胎儿血液的结果进行对照,有助于加强诊断并使妊娠得以继续。

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