Fig. 2

Pedigree of the investigated family and its NGS results of DMD. a Genealogical tree of the DMD family. Proband, male DMD patient; : Normal male; : Normal female; : Female DMD carrier; : Female with unknown DMD. b Detection of dystrophin gene mutations by MLPA (c) Detection of maternal components in the amniotic fluid using Microreader 21 Direct ID system. d The hemizygous mutation c.6794delG was detected in the proband. e The heterozygous c.6796delA was detected in the amniotic fluid. f The frequency of c.6796delA detected in the mother’s peripheral blood during her pregnancy was low, and the mosaic level was 3.87% (18/465). g The frequency of c.6796delA detected in the mother’s peripheral blood after pregnancy was low, and the mosaic level was 5.31% (65/1224)