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

Figure 3

Karyotypes of the patient and his parents. (a) Karyotype analysis (400 bands, G-bands) of the patient shows a balanced translocation (red arrows), with a karyotype of 46,XY,t (4;20)(q22;p12). (b) Karyotype analysis (550 bands, G-bands) of the father shows a normal karyotype of 46,XY. (c) Karyotype analysis (550 bands, G-bands) of the mother shows a normal karyotype of 46,XX.

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(b)

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