Figure 2.
Standard cytogenetic analysis showing the complex karyotype from case 1 and M-FISH with dual-color FISH confirming the t(2;17;7)(p23;q23;q?22). The inserted locus-specific FISH images show the location of the multiple copies of the ALK gene. The colocalization of the green and red probes (yellow signal) is seen on the 2 copies of the normal chromosome 2. The centromeric ALK probe (green) is seen on the der(2) and on the derivative chromosome 12. The telomeric ALK probe (red) is localized to the 2 copies of the der(17). The white asterisks denote the chromosomes involved in the 3-way translocation. The combined G-band and M-FISH karyotype interpretation was as follows: 80, XXY, der(1)t(1;13)(q10;q10), t(2;17;7)(p23;q23; q22), del(3)(p25), +der(3)(3qter-> 3p21::15q11-> 15q21::1q25-> 1qter), der(5)t(5;8)(q33; q22), +der(5)t(5;8)(q33;q22),+del(6)(q?21),+der(7)(7pter-> 7q11::3?-> 3?::1q25::1qter), +der(7)t(7;11)(q11;p11),+der7t(7;17)(?;?),der9t(9;11)(p23;?q23),der11t(7;11)(p13;p14),+der12-(12pter-> 12q21::2p1?3-> p23::7q22-> 7qter), -13, del(14)(q?13q24), der(15)t(1;15)(q25; q22),+der(17)t(2;17;7)(p23;q23;q22), +18,+19,+der(20)t(3;20)(?p25;q12),+21.