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Updated: Jul 9, 2025

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产前识别一个反向重复的13q标记染色体与一个新中心染色体

Liselot van der Laan1, Daniel R Hoekman1, Esther J Wortelboer1

  • 1Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

Molecular cytogenetics
|November 29, 2023
PubMed
概括

一个罕见的标志性染色体,13q与新中心体的反向重复,在一个患有先天异常的胎儿中被发现. 尽管正常的非侵入性产前检测结果出现了这种情况.

关键词:
假阴性NIPT试验结果是错误的标记性染色体是一个标记性染色体.这是一个新中心时期.胎盘的马赛克主义

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