Table 6.
List of de novo chromosomal (FPAs and pathogenic alterations) and subchromosomal (CNVs and CNAs) detected by G-banding and aCGH, respectively, in post-adaptation hPSCs.
Alteration | Region | Size | % of Affected hPSCs | |
---|---|---|---|---|
Pathogenic chromosomal alterations |
Trisomy | +8 | NA | 3.30 |
Trisomy | +12 | NA | 2.20 | |
Isochromosome | i(20) (q10) | NA | 3.30 | |
Chromosomal FPAs | Pericentric inversion | inv(9) (p11q13) | NA | 1.10 |
Microsatellite | 21qs+ | NA | 4.40 | |
Subchromosomal CNVs | Deletion | 3q26.21 | 62 kb | 9.09 |
Insertion | 4q35.2 | 219 kb | 9.09 | |
Subchromosomal CNAs | Insertion | 14q23.3 | 370 kb | 18.18 |
Insertion | 14q32 | 136 kb | 9.09 | |
Duplication | 20q11.21 | 4.7 Mb | 9.09 |