Figure 2.

Representative examples of chromosomes 1 in Patient # 64. (A) Chromosome 1 with an inverted duplication of 1q12~23 and whole 1q distal to the duplication. This chromosome 1 shows three copies of CKS1B, two inside the inverted duplication and one in the normal position. (B) Example of a cell where the entire 1q distal to the inverted duplication has broken off (open arrow), forming a jumping 1q (JT1q)(bracket). (C) Example of another intermediate der(1) following the loss of the whole 1q distal to the amplicon. Breakage in the distal satII/III sequences (open arrow) results in a truncated der(1) with an inverted duplication and deletion of 1q similar to that seen in Patient #66 (Fig 1A). (D) Isodicentric chromosome 1 showing two copies of 1p and two copies of the amplicon (CKS1B CN of 4) bracketed by satII/III signals. Open arrow indicates the point of SCF at the distal satII/III signal. (E) Hybridization of an isodicentric chromosome 1 showing two copies of the amplicon with four copies of CKS1B bracketed by satII/III (Left). On right, rehybridization of the same chromosome 1 with alpha sat 1 (red) to demonstrate two copies of chromosome 1 centromere and BAC probe RP11-153J19 (1p12 in green) just distal to the centromere confirming the intermediate isodicentric structure with two copies of the centromeric region and 1p. (F) Chromosome 1 demonstrating the loss of one of the copies of the short arm of chromosome 1p, distal to two copies of the amplicon (open arrow).