Sanger sequencing for the breakpoints of chromosomes 12 and 22 of the proband.

This study described the application of nanopore sequencing in identifying a pathogenic variant of 22q13.33 microdeletion (1.2 Mb) of an 11-year-old child with severe intellectual disability in a four-generation Chinese family. The precise location of chromosomal breakpoints and the accurate karyotypes of the proband and other family members were determined by PCR and Sanger sequencing, which is helpful for providing effective genetic counseling and reproductive strategy guidance.