Balanced Translocation Disrupting <i>JAG1</i> Identified by Optical Genomic Mapping in Suspected Alagille Syndrome

<div>Breakpoints indicated in whole genome sequencing (WGS) of the patient. Reinvestigating the WGS data for the patient identified compatible breakpoints on chromosome 4 and 20: chr20:10671489 and chr4:88813300 (black arrows). The majority of sequences matching the reference sequences (GRCh38/hg38) are shown in gray. The yellow bars on the left represent gene sequences mapped to chromosome 4 and abnormally inserted into chromosome 20, while the purple-red bars on the right represent gene sequences mapped to chromosome 20 and abnormally inserted into chromosome 4.</div>

Human Mutation

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Figure 2: Balanced Translocation Disrupting <i>JAG1</i> Identified by Optical Genomic Mapping in Suspected Alagille Syndrome 

Human Mutation

Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille Syndrome

Figure 2