Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report.
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ABSTRACT:
SUBMITTER: Xue H
PROVIDER: S-EPMC10369338 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
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Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report.
Xue Huiqin H Tang Qiaoyin Q Feng Yu Y Zhao Chenyue C Xu Ke K Gu Weiyue W Xue Zhaoyu Z Li Xinyan X Jiang Jinsong J Lu Hongyong H Sun Xiayu X Wu Jianrui J Cao Guizhi G
Frontiers in genetics 20230712
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 of the three children were normal. Trio whole-exome sequencing and Sanger sequencing verification found that there was a MED12 R296Q variant in normal mothers and their two offspring. A pattern of cl ...[more]
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