FA-D2 patient | Age (years) | Karyotype | Most frequent breakpoints | Fragile site (FS) | Breakpoint frequency (%) | Telomere fusion frequency (%) | Average telomere length (RTLUa ± SD) | Radial figures frequency (%) | |
---|---|---|---|---|---|---|---|---|---|
Group A | 1 | 8 | 46,XX | 1q42.2 | distal to FRA1H | 1.72 | 1.95 | 14.76 ± 3.23 | 7.06 |
14q24.3 | FRA14G | 3.09 | |||||||
18q21.3 | FRA18B | 1.72 | |||||||
2 | 6 | 46,XX | 2q35 | FRA2U | 2.4 | 1.54 | 23.02 ± 12.73 | 1.78 | |
3p14.2 | FRA3B | 2.4 | |||||||
5q33.2 | FRA5O | 2 | |||||||
7q32.3 | FRA7H | 1.6 | |||||||
3 | 17 | 46,XX | 3q27.1 | FRA3C | 2.75 | 1.62 | 35.72 ± 7.00 | 1.88 | |
5q13.2 | FRA5K | 2.75 | |||||||
5q33.2 | FRA5O | 3.29 | |||||||
Group B | 4 | 3 | 46,XX | 3p14.2 | FRA3B | 11.07 | 0.08 | 20.48 ± 12.24 | 0.78 |
3p21.31 | FRA3H | 3.95 | |||||||
7q32.3 | FRA7H | 1.19 | |||||||
5 | 3 | 46,XX,der(21)t(15;21)(q15;p11.1)[5]/46,XX [15] | 1p13 | FRA1N | 1.76 | 0.72 | 21.01 ± 10.33 | 0.715 | |
1q21 | FRA1F | 1.32 | |||||||
3p21.31 | FRA3H | 1.32 | |||||||
11q13 | FRA11H | 0.88 | |||||||
6 | 11 | 46, XY, der(16)t(1;16)(q42;p11.2)del(1) (q42)[1]/46,XY[31] | 3p14.2 | FRA3B | 1.88 | 0.23 | 23.91 ± 6.92 | 0.23 | |
3p21.31 | FRA3H | 0.63 | |||||||
16q22.1 | FRA16C | 1.88 | |||||||
16q23 | FRA16D | 6.88 |