16p11.2微删除/微复制的胎儿的产前表型和妊娠结果

Fagui Yue1,2, Mengzhe Hao1,2, Dandan Jiang1,2

  • 1Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, 130021, China.

PubMed
概括

16p11.2副本数变异 (CNVs) 的产前诊断显示出不同的胎儿表型. 虽然缺失显示出各种异常,但重复通常存在没有明确的超声波标记,需要长期的婴儿随访.

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