Table 3.
Array CGH results | |||
---|---|---|---|
Case No. | INI1 | Gain | loss |
L01* | + | 1q21.3, 11q11, 14q32.33, | 8p11.23 |
L02 | + | 1q21.3, 14q32.33, 22q11.23 | 7q36.1, 12p13.31, 21p11.1 |
L06 | + | 1q21.3, 11q11, 22q11.23, 22q13.31 | 7q36.1, 12p13.31, 15q11.2, 21p11.1 |
L07 | + | 11p15.5 ~ p15.4, 14q32.33, 22q11.23, 22q13.31 | 7q36.1, 8p11.23, 12p13.31, 21p11.1 |
L08 | + | 11p15.5 ~ p15.4, 11q11, 14q32.33, 22q11.23, 22q13.31 | 15q11.2, 21p11.1 |
A03 | - | 1q21.3, 11p15.5 ~ p15.4, 11q11, 14q32.33, 22q11.23 | 8p11.23, 15q11.2 |
A04 | - | 11p15.5 ~ p15.4, 14q32.33, 22q13.31 | 7q36.1, 8p11.23, 21p11.1 |
A05 | - | 15q11.2, 21p11.1 | |
A09** | - | 14q32.33, 22q11.23 | 7q36.1, 12p13.31 |
* Mutation on 1 allele; no mutation on the protein level
** Mutation on 1 allele; results in a new protein with additional 79 a.a