Fig. 3

Complete maternal uniparental isodisomy of chromosome 4. a ChAS revealed a complete iUPD of chromosome 4 in the fetus (blue line) by showing an absence of heterozygosity (AOH) across the entire chromosome (purple rectangle, blue arrow). The results of an AOH analysis were normal for his mother (red line) and his father (light blue line). The purple rectangle on the X chromosome indicates the hemizygous state in the male samples. b Three allelic lines indicate the heterozygous state of the mother (red line) and father (light blue line), whereas the two allelic lines indicate that an AOH occurred for a whole chromosome of the fetus (blue line). c-e A whole chromosome view clearly shows the copy neutral AOH on chromosome 4 in the fetus (red arrow) and a normal chromosome 4 in his parents