Table 2 of
Ahani, Mol Vis 2013; 19:454-462.
Table 2. The rearrangements found in the 21 retinoblastoma patients detected by MLPA in tumor as well as blood samples.
Patient’s ID | Mutation in tumor sample | Mutation in blood sample | Type of disease | Familial History |
---|---|---|---|---|
IRB1 | Del Ex 8 −12 | Normal | Unilateral | No |
IRB12 | Whole gene deletion | Whole gene deletion | Unilateral | No |
IRB13 | Del Ex 17 | Normal | Unilateral | No |
IRB14 | Del Ex 8–24 | Del Ex 8–24 | Bilateral | No |
IRB15 | Del Ex 6–7, Del Ex 20–21 | Del Ex 6–7 | Bilateral | No |
IRB19 | Dup Ex 19 | Dup Ex 19 | Unilateral | No |
IRB22 | Dup Ex 8–27 | Normal | Unilateral | No |
IRB28 | Whole gene deletion | Normal | Unilateral | No |
IRB35 | Dup Ex 1–23 | Normal | Unilateral | No |
IRB38 | Whole gene deletion | Whole gene deletion | Bilateral | No |
IRB40 | Dup Ex 22 | Dup Ex 22 | Bilateral | No |
IRB41 | Whole gene deletion | Whole gene deletion | Bilateral | No |
IRB113 | No tumor sample available | Del Ex 13 | Unilateral | No |
IRB120 | No tumor sample available | Whole gene deletion | Bilateral | No |
IRB133 | No tumor sample available | Whole gene deletion | Bilateral | No |
IRB139 | No tumor sample available | Whole gene deletion | Bilateral | No |
IRB143 | No tumor sample available | Whole gene deletion | Unilateral | Yes |
IRB158 | No tumor sample available | Whole gene deletion | Unilateral | No |
IRB159 | No tumor sample available | Del Ex 19 | Bilateral | No |
IRB179 | No tumor sample available | Del Ex 19 | Unilateral | No |
IRB194 | No tumor sample available | Del Ex 17 | Bilateral | No |