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 MED12 deficiency. This study reports the clinical genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes children were normal. Trio whole-exome sequencing Sanger verification found there R296Q variant normal mothers their two offspring. pattern (clinodactyly) clubfoot all by three-dimensional ultrasound. discovery this case even if normal, comprehensive prenatal diagnosis required when ultrasound results show clinodactyly symptoms.