Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report

A fetal clenched hand with overlapping fingers is more common in aneuploidy syndrome and was not well-documented in MED12 deficiency. This study reports the clinical and genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes...

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Bibliographic Details
Main Authors: Huiqin Xue, Qiaoyin Tang, Yu Feng, Chenyue Zhao, Ke Xu, Weiyue Gu, Zhaoyu Xue, Xinyan Li, Jinsong Jiang, Hongyong Lu, Xiayu Sun, Jianrui Wu, Guizhi Cao
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1037345/full