综合细胞遗传分析发现新生儿的马赛克主义 阴性产前唐氏综合征查:一个病例报告

Irina Puppo1, Alla Vardanyan1, Gohar Shahsuvaryan1

  • 1EcoSense Laboratory and Diagnostic Center, Yerevan, Armenia.

概括

唐氏综合征 (三合体21) 中的马赛主义可能导致产前查结果呈错误阴性. 结合非刺激细胞和口腔涂抹的FISH,可以提高新生儿的诊断准确度.

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