PMC

Numerical chromosome changes in 21 experimental EC tumors as identified by SKY analysis. As shown, chromosomal gains are less common, but more profound compared to chromosomal losses.

a Representative images of mitotic chromosome spreads depicting a normal karyotype and numerical changes including small-scale losses, small-scale gains and large-scale gains. b Dot plots depicting chromosome numbers in control cells and following SKP1 or CUL1 silencing in FT194 and FT246 cells. The horizontal dotted line identifies the modal number of chromosomes for control cells (n = 46). n = 2; 100 spreads analysed/condition. c Bar charts depicting the frequencies of small-scale (<10) or large-scale (≥10) chromosome gains and losses relative to the modal chromosome number in FT194 and FT246 cells. n = 2; 100 spreads analysed/condition.

Probe map of chromosome 14 and chromosome 1 with visualization of target genes, their sizes, and fluorescent dye used on visualization. (A) Map of break-apart probe of IGH gene capable of detected aberration: deletion, amplification, and breakage in gene; (B) Map of numerical probe on chromosome 1 able to detect only numerical changes: deletion and additions of material [].

Numerical chromosomal changes and uniparental disomy in pediatric ALL. (A) Frequency of pentasomy/tetrasomy/trisomy affecting each chromosome. For X chromosome, trisomy (105 cases) contains trisosomy X in male pateints (67 cases) and disomy X in female patients (38 cases). All tetrasomy X were female patients. (B) Frequency of uniparental disomy (UPD). Whole: cases with whole chromosome UPD; p arm: cases with UPD of short arm; and q arm: cases with UPD of long arm. Chr: chromosome. UPD involving X chromosome was detected only in female cases. (C) Distribution of whole and partial chromosome UPD in HD and non–HD-ALL. Whole chromosome UPD is frequently detected in HD-ALL. Thirty-four cases with whole chromosome UPD were HD-ALL. Partial UPD is frequently detected in non–HD-ALL. Fifteen of 63 cases with partial UPD were HD-ALL. (D) Frequency of deletion of p16INK4A gene in whole chromosome 9 UPD and 9p UPD. Twenty-three cases showed deletion of p16INK4A, out of a total of 30 cases with 9p UPD. One case had p16INK4A deletion from a total 18 ALL samples with whole chromosome 9 UPD.