Figure 1.

Analysis of mosaic trisomy 22 identified by microarray and FISH. (A) Microarray plot showing a normal chromosome 22. Clones are ordered on the x axis according to physical mapping positions with proximal 22q to the left and distal 22q to the right. The blue line represents the ratios for each clone from the first experiment (control Cy5/patient Cy3), and the pink line represents the ratios for each clone obtained from the second experiment in which the dyes have been reversed (patient Cy5/control Cy3). (B) Microarray plot showing chromosome 22 in the fetus. BAC clones are ordered as in (A). Pink shading indicates a gain over all clones. (C) Metaphase FISH analysis using BAC clone RP11-625J4 to the 22q13.31 region showed two copies in 19 out of 30 cells. (D) Metaphase FISH showed three copies of BAC clone RP11-625J4 in 11 out of 30 cells. These results are consistent with mosaic trisomy 22