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. 2016 Sep 13;9(1):70. doi: 10.1186/s13039-016-0280-6

Table 2.

FA-D2 patients’ karyotypes and molecular cytogenetic findings

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

aRTLU–relative telomere length units