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