:

Nicoletta Villa1, Serena Redaelli2, Stefania Farina1,2

  • 1UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.

PubMed
概括

胎儿染色体异常的产前诊断需要与型定型一起进行分子测试. 一个平衡的转位案例揭示了事实上的基因组失衡,由于PEX3删除,将唐氏综合征风险改变为Zellweger频谱风险.

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