Fig. 2.

( A ) Result of CytoScan 315K array exhibiting deletion in 10q11.22 to 10q11.23. ( B ) Targeted next-generation sequencing (MiSeq)] revealed that proband had a novel heterozygous c.245A > G (p.Asn82Ser) variant in NIPBL gene.

( A ) Result of CytoScan 315K array exhibiting deletion in 10q11.22 to 10q11.23. ( B ) Targeted next-generation sequencing (MiSeq)] revealed that proband had a novel heterozygous c.245A > G (p.Asn82Ser) variant in NIPBL gene.