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Figure S1. Rearrangement specific PCR of the patients and the family members of P2. In the patients, PCR products used multiplex primers were showed two bands, in contrast one band in the wild-type. (A) PCR for the breakpoint junction of P1. (B) Breakpoint junction of P2, his mother and his grandmother. (C) Breakpoint junction of P3. Primer sequences are listed in Table S4. M, 100 bp DNA ladder marker; WT, wild-type control; P1–P3, Patient 1–3; Mo, P2’s mother; GMo, P2’s grandmother. (D–F) Schematic summaries of rearrangement specific PCR locations of Xq28. Upper; patient model, lower; wild-type (int22h-123 variant for P1 and P2, int22h-132 variant for P3). Arrows indicate the sites of PCR primer pairs. Two PCR bands with green-blue and red-blue primer pairs were amplified in the patients, but only one band with green-blue primer pair was amplified in the wild-type.

Table S1. (A) IS-PCR primers. (B) Expected product size in each reaction.

Table S2. PCR mapping primers.

Table S3. Inverse PCR and sequencing primers.

Table S4. Breakpoint specific primers.

FilenameFormatSizeDescription
JTH_4897_sm_FigS1-TableS1-S4.pdf120KSupporting info item
JTH_4897_sm_FigS1a-c.tiff1520KSupporting info item
JTH_4897_sm_FigS1d-f.tiff1520KSupporting info item

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