Table 4 List of all genomic rearrangements identified by aCGH or karyotype analysis
ID | Laterality | Cytogenetics | MLPA | a-CGH | Size |
|---|---|---|---|---|---|
26 | TRB | 46,XX,del(13)(q14q22) | Del whole gene | arr 13q13.3q14.3(35,876,405-53,551,359)x1 | 17.7 Mb |
27a | BRB | 46,XY,del(13)(q13q14) | / | / | >10 Mb |
28 | BRB | 46, XY | Dup exon 18 to 23 | arr 13q14.2(48,973,699-49,039,548)x3 | 65.8 Kb |
29 | BRB | 46,XX | Del exon 1a-1b | arr 13q14.2(48,877,905-48,878,660)x1 | 755 bp |
30 | BRB | 46,XX | Del exon 17 | arr 13q14.2(48,954,774-48,955,679)x1 | 905 bp |
31 | BRB | 46, XY | Del exon 3 to 6 | arr 13q14.2(48,902,145-48,923,382)x1 | 21.2 Kb |
25b | BRB | 46, XX | Del exon 7 | Negative | / |
32 | URB | 46,XY,del(13)(q14q22) | Del whole gene | arr 13q13.3q21.33(38,225,360-72,646,762)x1 | 34.5 Mb |
33 | URB | 46,XY,del(13)(q14q22) | Del whole gene | arr 13q14.11q21.33(43,793,461-69,444,583)x1 | 25.7 Mb |
34 | URB | 46, XY | Del whole gene | arr 13q14.11q14.2(43,793,461-49,523,881)x1 | 5.7 Mb |
35 | URB | 46, XY | Del whole gene | arr 13q14.2(47,343,288-49,047,329)x1 | 1.74 Mb |
36 | URB | 46, XY | Del whole gene | arr 13q14.2(47,657,454-49,309,890)x1 | 1.65 Mb |