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- Title
Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report.
- 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
- Abstract
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 clenched hand with overlapping fingers (clinodactyly) and clubfoot was found in all the three affected siblings by three-dimensional ultrasound. The discovery of this case shows that even if the chromosome karyotype is normal, comprehensive prenatal genetic diagnosis is required when the ultrasound results show a clenched hand with clinodactyly and clubfoot symptoms.
- Subjects
CLUBFOOT; PRENATAL diagnosis; SIBLINGS; CHROMOSOME analysis; GENETIC disorder diagnosis
- Publication
Frontiers in Genetics, 2023, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2023.1037345