Fig. 1

Diagrammatic representation of the gene rearrangement in the patient 1. This inversion spans a vast distance of 110.81 Mb, stretching from chrX:31,927,491 (Xp21.1) to chrX:142,742,006 (Xq27.3), crossing the centromere on the X chromosome. Additionally, a 9 bp deletion spanning chrX:31,927,482 − 31,927,490 and a 313 bp duplication within chrX:142,741,694 − 142,742,006 in the patient’s DNA were identified. A: Patient’s gene showing the inverted and duplicated segments and mutation breakpoints. B: Schematic representation of the IGV at jct1. C: Schematic representation of the IGV at jct2. D: The proximal mutation breakpoint sequence. E: The distal mutation breakpoint sequence