Fig. 4

Diagrammatic representation of the gene rearrangement in the patient 2. This paracentric inversion spans a distance of 6.31 Mb, stretching from chrX:26,046,702 (Xp21.3) to chrX:32,353,866 (Xp21.1). Additionally, a 1 bp deletion on the chrX:26,046,701 and a 37 bp deletion spanning chrX:32,353,828 − 32,353,865 in the patient’s DNA were identified. A: Patient’s gene showing the inverted segments and mutation breakpoints. B: The sanger sequence of the proximal mutation breakpoint sequence of the patient 2. C: Schematic representation of the IGV at jct1. D: Schematic representation of the IGV at jct2. E: The sanger sequence of the distal mutation breakpoint sequence of the patient 2