Table 3. Details of the identified CNVs in 17 TS cases.
| Patient ID | CNV1 | Physical position2 | Chromosomal band | Size | Genes included in the CNV3 |
|---|---|---|---|---|---|
| Rare | |||||
| P16 | Deletion | Chr7:2669219-2873356 | 7p22.3 | 204 kb | TTYH3, AMZ1, GNA12 |
| P17 | Insertion | Chr7:2966516-3334799 | 7p22.2 | 368 kb | BC038729, CARD11 |
| P6 | Insertion | ChrX:201725-2703662 | Xp22.33 | 2.50 Mb | SHOX |
| Common | |||||
| P3 | Insertion | Chr2:132058664-132269102 | 2q21.1 | 210 kb | WTH3DI, LOC389043, LOC401010 |
| P4 | Deletion | Chr6:66865606-66967579 | 6q12 | 102 kb | CRYBB2P1 |
| P1 | Deletion | Chr6:259519-381137 | 6p25.3 | 122 kb | DUSP22 |
| P4 | Deletion | Chr6:257339-381137 | 6p25.3 | 124 Kb | DUSP22 |
| P12 | Deletion | Chr6:254253-381137 | 6p25.3 | 127 Kb | DUSP22 |
| P6 | Insertion | Chr14:106206397-106709974 | 14q32.33 | 504 Kb | KIAA0125, ADAM6 |
| P1 | Insertion | Chr14:106253008-106761968 | 14q32.33 | 509 Kb | KIAA0125, ADAM6, LINC00226 |
| P3 | Insertion | Chr14:106251486-106750867 | 14q32.33 | 499 Kb | KIAA0125, ADAM6, LINC00226 |
| P7 | Insertion | Chr14:106227153-106717343 | 14q32.33 | 490 kb | KIAA0125, ADAM6 |
| P10 | Insertion | Chr14:106329183-106728149 | 14q32.33 | 399 kb | KIAA0125, ADAM6 |
| P1 | Deletion | Chr16:32564735-33814547 | 16p11.2 | 1.25 Mb | TP53TG3B, TP53TG3, TP53TG3C |
| P12 | Deletion | Chr16:90050941-90155062 | 16q24.3 | 104 kb | PRDM7, FAM157C |
| P3 | Insertion | Chr22:25656237-25922334 | 22q11.23-22q12.1 | 266 kb | IGLL3P, LRP5L, CRYBB2P1 |
| P5 | Insertion | Chr22:22929812-23258438 | 22q11.22 | 329 kb | POM121L1P, GGTLC2, MIR650 |
| P7 | Insertion | Chr22:23124497-23258438 | 22q11.22 | 134 kb | MIR650, IGLL5 |
1
CNVs classification has been performed according to the Database of Genomic Variants (http://projects.tcag.ca/variation/).
2
According to the genome assembly hg19 (UCSC Genome Browser, release February 2009, http://genome.cse.ucsc.edu, hg19).
3
Genes likely to be implicated in TS.