Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

Figure 4

FISH studies revealed a four-break balanced complex rearrangement in the patient’s father. (a) By using BAC probe RP11-165D10 (red) and control probe RP11-483A2 (green), FISH studies identified that the 4q13.2 segment has moved from derivative chromosome 4 to derivative chromosome 6. (b) By using BAC probe RP11-1077K2 (red) and control probe RP11-346K8 (green), FISH studies identified that the 6q24.3 segment has moved from derivative chromosome 6 to derivative chromosome 4. (c) A simplified diagram to show the increased risk of having an unbalanced offspring in this family. Green represents the 4q13.2-q21.1 segment and the red represents the 6q24.3 segments. In the father, the green and red segment, switch locations leading to unbalanced offspring with either 3 copies of the red segment and 1 copy of the green segment (as in the patient) or 3 copies of the green segment and 1 copy of the red segment.