A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome

Chromosomal microarray analysis (CMA), methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), and trio-whole exome sequencing (WES) were performed in a female fetus with omphalocele. A de novo heterozygous 300-kb deletion in the Xq13.1 region, which includes the MED12 gene,...

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Veröffentlicht in:	Prenatal diagnosis 2024-12
Hauptverfasser:	Wu, Liping, Xu, Jinmao, Cong, Xiaoyi, Zhang, Tong, Pei, Yuanyuan, Liu, Jinghua, Zheng, Hongping, Liu, Weiqiang
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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