Results from case 46.

(A) SKY of bone marrow chromosomes from case 46. Upper panel shows display of colors representation; lower panel shows karyotype of spectra-based classification chromosomes. Note the monosomy of chromosome 13 and the subtle t(8;13) translocation. (B) Metaphase-FISH of bone marrow chromosomes from case 46. The t(8;13) is identified by metaphase showing colocalization of D13S221 (green) and the chromosome 8 centromere-specific probe CEP8 (orange). The most centromeric marker in our panel, 13-07-5′/3′, also showed colocalization with the orange signal. Other markers along the chromosome were tested and none showed colocalization (data not shown). The normal chromosome 13 is identified by the colocalizing green and red signals. The red signal is derived from the telomeric probe D13S285. The normal chromosome 8 is identified by the single orange signal. The 2 orange signals derived from the sister chromatids are overlapping due to overexposure. All chromosomes are stained blue with DAPI.