Figure 2 |. Long-read multi-ome for resolving the genetic basis of an unsolved Mendelian condition.

a, Pedigree for the proband, as well as the clinical features of the proband and the results of her karyotype and that of her parents. b, Image of the proband’s karyotype with the der(13) and der(X) chromosomes marked by red arrows. c, Sequence of the breakpoints on der(X) and der(13), as well as the sequence of this same region in chromosomes 13 and X in her father. Sanger trace showing validation of the der(X) breakpoint junction. d, (top) Idiogram showing the intact chromosomes 13 and X, as well as the derivative chromosomes 13 and X in the proband. Translocation breakpoints, and the location of the gene NBEA are highlighted. (bottom) Gene model for both NBEA isoforms that differ in their transcriptional start site, showing the portion of NBEA that is located on der(13) versus der(X). e, Schematic showing the breakpoint and fusion event that occurred selectively on the paternal haplotype.