Table 1.
Detection of mosaicism using molecular cytogenetic studies.
Figure 1.
Results High-resolution SNP array using uncultured umbilical cord blood material.
A: Whole genome array: Log2 intensity (Top) and B-Allele Frequencies BAF (Bottom). Top: Y-axis: Relative Copy Number State. X-axis: autosomes number 1–22 and the two sex chromosomes. Displayed are the relative and normalized log2 intensities of all available SNPs on the array across the patients' genome. At the beginning of chromosome 5 a slight drop of log2 intensity is visible representing the deletion of part of the short arm of chromosome 5 in a low-mosaic state. Similarly, the mosaic 12p duplication is depicted as a small peak of log2 intensity at the beginning of chromosome 12. Bottom: confirmation of aberrations by the more clearly visible changes in BAF. B: Enlarged views of the results of chromosome 5 (left) and 12 (right) showing both the log2 intensity window as well as the BAF results.
Figure 2.
Fluorescent In-Situ Hybridization results using cultured amniotic fluid and skin material.
A: Left: Schematic representation of the unbalanced der(5)t(5;12)(p13.2;p12.3) and its normal chromosome 12 counterpart. Right: Partial Karyotype of the patient showing both the normal and abnormal chromosome 5 and both normal chromosomes 12. B: Fluorescent In-Situ Hybridization (FISH) on a metaphase spread of 1 umbilical cord-fibroblast-cell presenting 1 copy of BAC clone RP11-7M4 (Green) on the normal chromosome 5 and 3 of clone RP11-62P15 (red) on both chromosomes 12 and the der(5) C: Whole-Chromosome Paint FISH results of 1 AF-cell showing duplication of part of the short arm of chromosome 12 (WCP12: red) at the expense of part of 1 copy of chromosome 5 (WCP5:green).