Table 1.
Case No. | Karyotype | Metaphase FISH interpretation |
---|---|---|
1 | 45,XX,del(12)(q?14q?15),hsr(14)(q2?1),-22[7].ish del(12)(q14.3q14.3)(5′HMGA2-,3′HMGA2-),hsr(14)amp(3′HMGA2) |
HMGA2 amplification on abnormal 14q, breakpoint 5′ (centromeric) to 3′HMGA2 |
21 | 45,XX,der(14)t(12;14)(q15;q24),-22.ish der(14)t(12;14) (RAD51L1+,5′HMGA2+,3′HMGA2+) |
3 copies of HMGA2, breakpoint 5′ (centromeric) to HMGA2 |
32 | 45,XX,-10,add(11)(q11),der(14)t(12;14)(q15;q24)[12]/45,XX,-10,add(11)(q11),t(12;14)(q15;q24)[3].ish der(14)t(12;14)(5′HMGA2+,3′HMGA2+)/t(12;14)(5′HMGA2-,3′HMGA2-;5′HMGA2+,3′HMGA2+) |
Mosaic karyotype with 3 and 2 copies of HMGA2, breakpoint 5′ (centromeric) to HMGA2 |